ID MYP0_HUMAN Reviewed; 248 AA. AC P25189; Q16072; Q5VTH4; Q92677; Q9BR67; DT 01-MAY-1992, integrated into UniProtKB/Swiss-Prot. DT 01-MAY-1992, sequence version 1. DT 27-MAR-2024, entry version 240. DE RecName: Full=Myelin protein P0; DE AltName: Full=Myelin peripheral protein; DE Short=MPP; DE AltName: Full=Myelin protein zero; DE Flags: Precursor; GN Name=MPZ; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). RC TISSUE=Fetal spinal cord; RX PubMed=1719967; DOI=10.1016/s0006-291x(05)81094-0; RA Hayasaka K., Nanao K., Tahara M., Sato W., Takada G., Miura M., Uyemura K.; RT "Isolation and sequence determination of cDNA encoding the major structural RT protein of human peripheral myelin."; RL Biochem. Biophys. Res. Commun. 180:515-518(1991). RN [2] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), AND VARIANT CMT1B RP HIS-98. RC TISSUE=Spinal cord; RX PubMed=7688964; DOI=10.1006/bbrc.1993.1968; RA Hayasaka K., Ohnishi A., Takada G., Fukushima Y., Murai Y.; RT "Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1."; RL Biochem. Biophys. Res. Commun. 194:1317-1322(1993). RN [3] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RX PubMed=7509228; DOI=10.1093/hmg/2.12.2051; RA Pham-Dinh D., Fourbil Y., Blanquet F., Mattei M.-G., Roeckel N., Latour P., RA Chazot G., Vandenberghe A., Dautigny A.; RT "The major peripheral myelin protein zero gene: structure and localization RT in the cluster of Fc gamma receptor genes on human chromosome 1q21.3-q23."; RL Hum. Mol. Genet. 2:2051-2054(1993). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). RC TISSUE=Pericardium; RX PubMed=14702039; DOI=10.1038/ng1285; RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S., RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., RA Isogai T., Sugano S.; RT "Complete sequencing and characterization of 21,243 full-length human RT cDNAs."; RL Nat. Genet. 36:40-45(2004). RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., RA Phelan M., Farmer A.; RT "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."; RL Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases. RN [6] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=16710414; DOI=10.1038/nature04727; RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K., RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.; RT "The DNA sequence and biological annotation of human chromosome 1."; RL Nature 441:315-321(2006). RN [7] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., RA Hunkapiller M.W., Myers E.W., Venter J.C.; RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases. RN [8] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). RC TISSUE=Skin; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA project: RT the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [9] RP NUCLEOTIDE SEQUENCE [MRNA] OF 1-115 (ISOFORM 1), AND VARIANT CMT1B SER-63 RP DEL. RX PubMed=7693130; DOI=10.1038/ng0993-35; RA Kulkens T., Bolhuis P.A., Wolterman R.A., Kemp S., Te Nijenhuis S., RA Valentijn L.J., Hensels G.W., Jennekens F.G., de Visser M., RA Hoogendijk J.E., Baas F.; RT "Deletion of the serine 34 codon from the major peripheral myelin protein RT P0 gene in Charcot-Marie-Tooth disease type 1B."; RL Nat. Genet. 5:35-39(1993). RN [10] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 24-248, AND VARIANT CMT1B GLU-134. RX PubMed=7530774; DOI=10.1136/jmg.31.10.811; RA Nelis E., Timmerman V., De Jonghe P., Muylle L., Martin J.-J., RA Van Broeckhoven C.; RT "Linkage and mutation analysis in an extended family with Charcot-Marie- RT Tooth disease type 1B."; RL J. Med. Genet. 31:811-815(1994). RN [11] RP PARTIAL PROTEIN SEQUENCE (ISOFORM L-MPZ), ALTERNATIVE SPLICING, AND RP SUBCELLULAR LOCATION (ISOFORM L-MPZ). RC TISSUE=PNS; RX PubMed=22457349; DOI=10.1074/jbc.m111.314468; RA Yamaguchi Y., Hayashi A., Campagnoni C.W., Kimura A., Inuzuka T., Baba H.; RT "L-MPZ, a novel isoform of myelin P0, is produced by stop codon RT readthrough."; RL J. Biol. Chem. 287:17765-17776(2012). RN [12] RP REVIEW ON CMT1B VARIANTS. RX PubMed=7762451; DOI=10.1007/978-1-4757-9062-7_3; RA Roa B.B., Lupski J.R.; RT "Molecular genetics of Charcot-Marie-Tooth neuropathy."; RL Adv. Hum. Genet. 22:117-152(1994). RN [13] RP REVIEW ON CMT1B VARIANTS. RX PubMed=7518101; DOI=10.1016/0168-9525(94)90214-3; RA Patel P.I., Lupski J.R.; RT "Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited RT disease."; RL Trends Genet. 10:128-133(1994). RN [14] RP X-RAY CRYSTALLOGRAPHY (2.1 ANGSTROMS) OF 30-150, SUBUNIT, AND DISULFIDE RP BOND. RX PubMed=21971831; DOI=10.1002/prot.23164; RA Liu Z., Wang Y., Yedidi R.S., Brunzelle J.S., Kovari I.A., Sohi J., RA Kamholz J., Kovari L.C.; RT "Crystal structure of the extracellular domain of human myelin protein RT zero."; RL Proteins 80:307-313(2012). RN [15] RP VARIANT CMT1B MET-30. RX PubMed=7694726; DOI=10.1093/hmg/2.9.1369; RA Hayasaka K., Takada G., Ionasescu V.V.; RT "Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type RT 1B."; RL Hum. Mol. Genet. 2:1369-1372(1993). RN [16] RP VARIANT CMT1B CYS-82. RX PubMed=7505151; RA Himoro M., Yoshikawa H., Matsui T., Mitsui Y., Takahashi M., Kaido M., RA Nishimura T., Sawaishi Y., Takada G., Hayasaka K.; RT "New mutation of the myelin P0 gene in a pedigree of Charcot-Marie-Tooth RT neuropathy 1."; RL Biochem. Mol. Biol. Int. 31:169-173(1993). RN [17] RP VARIANTS CMT1B GLU-90 AND GLU-96. RX PubMed=7693129; DOI=10.1038/ng0993-31; RA Hayasaka K., Himoro M., Sato W., Takada G., Uyemura K., Shimizu N., RA Bird T.D., Conneally P.M., Chance P.F.; RT "Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the RT myelin P0 gene."; RL Nat. Genet. 5:31-34(1993). RN [18] RP VARIANTS CMT1B GLU-96 AND THR-216 DELINS GLU-ARG. RX PubMed=7504284; DOI=10.1073/pnas.90.22.10856; RA Su Y., Brooks D.G., Li L., Lepercq J., Trofatter J.A., Ravetch J.V., RA Lebo R.V.; RT "Myelin protein zero gene mutated in Charcot-Marie-Tooth type 1B RT patients."; RL Proc. Natl. Acad. Sci. U.S.A. 90:10856-10860(1993). RN [19] RP VARIANTS DSS CYS-63 AND ARG-167. RX PubMed=7506095; DOI=10.1038/ng1193-266; RA Hayasaka K., Himoro M., Sawaishi Y., Nanao K., Takahashi T., Takada G., RA Nicholson G.A., Ouvrier R.A., Tachi N.; RT "De novo mutation of the myelin P0 gene in Dejerine-Sottas disease RT (hereditary motor and sensory neuropathy type III)."; RL Nat. Genet. 5:266-268(1993). RN [20] RP VARIANTS CMT1B LEU-78 AND ASN-134. RX PubMed=7527371; DOI=10.1007/bf00206959; RA Nelis E., Timmerman V., de Jonghe P., Vandenberghe A., Pham-Dinh D., RA Dautigny A., Martin J.-J., van Broeckhoven C.; RT "Rapid screening of myelin genes in CMT1 patients by SSCP analysis: RT identification of new mutations and polymorphisms in the P0 gene."; RL Hum. Genet. 94:653-657(1994). RN [21] RP VARIANT CMT1B PHE-63. RX PubMed=8835320; DOI=10.1111/j.1399-0004.1995.tb04109.x; RA Blanquet-Grossard F., Pham-Dinh D., Dautigny A., Latour P., Bonnebouche C., RA Corbillon E., Chazot G., Vandenberghe A.; RT "Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63 codon RT in the major peripheral myelin glycoprotein PO gene."; RL Clin. Genet. 48:281-283(1995). RN [22] RP VARIANTS CMT1B LEU-78 AND CYS-101. RX PubMed=7550231; DOI=10.1002/humu.1380060110; RA Latour P., Blanquet F., Nelis E., Bonnebouche C., Chapon F., Diraison P., RA Ollagnon E., Dautigny A., Pham-Dinh D., Chazot G., Boucherat M., RA van Broeckhoven C., Vandenberghe A.; RT "Mutations in the myelin protein zero gene associated with Charcot-Marie- RT Tooth disease type 1B."; RL Hum. Mutat. 6:50-54(1995). RN [23] RP VARIANT DSS PHE-64 DEL. RX PubMed=8630052; DOI=10.1006/bbrc.1996.0705; RA Ikegami T., Nicholson G.A., Ikeda H., Ishida A., Johnston H., Wise G., RA Ouvrier R.A., Hayasaka K.; RT "A novel homozygous mutation of the myelin Po gene producing Dejerine- RT Sottas disease (hereditary motor and sensory neuropathy type III)."; RL Biochem. Biophys. Res. Commun. 222:107-110(1996). RN [24] RP VARIANTS CMT1B THR-135 AND SER-137. RX PubMed=8664899; RX DOI=10.1002/(sici)1098-1004(1996)7:1<36::aid-humu5>3.0.co;2-n; RA Roa B.B., Warner L.E., Garcia C.A., Russo D., Lovelace R., Chance P.F., RA Lupski J.R.; RT "Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot- RT Marie-Tooth disease."; RL Hum. Mutat. 7:36-45(1996). RN [25] RP VARIANT CMT1B SER-122. RX PubMed=8844219; RX DOI=10.1002/(sici)1098-1004(1996)8:2<185::aid-humu13>3.0.co;2-z; RA Blanquet-Grossard F., Pham-Dinh D., Dautigny A., Latour P., Bonnebouche C., RA Diraison P., Chapon F., Chazot G., Vandenberghe A.; RT "Charcot-Marie-Tooth type 1B neuropathy: a mutation at the single RT glycosylation site in the major peripheral myelin glycoprotein Po."; RL Hum. Mutat. 8:185-186(1996). RN [26] RP VARIANTS CMT1B/DSS ILE-34; CYS-98; HIS-98; ARG-130 AND LEU-135. RX PubMed=8797476; DOI=10.1212/wnl.47.3.761; RA Gabreeels-Festen A.A.W.M., Hoogendijk J.E., Meijerink P.H., RA Gabreeels F.J.M., Bolhuis P.A., van Beersum S., Kulkens T., Nelis E., RA Jennekens F.G., de Visser M., van Engelen B.G., van Broeckhoven C., RA Mariman E.C.; RT "Two divergent types of nerve pathology in patients with different P0 RT mutations in Charcot-Marie-Tooth disease."; RL Neurology 47:761-765(1996). RN [27] RP VARIANTS CMT1B CYS-98 AND SER-98, VARIANT DSS CYS-98, AND VARIANT CHN2 RP 215-GLN--LYS-248 DEL. RX PubMed=8816708; DOI=10.1016/s0896-6273(00)80177-4; RA Warner L.E., Hilz M.J., Appel S.H., Killian J.M., Kolodry E.H., Karpati G., RA Carpenter S., Watters G.V., Wheeler C., Witt D., Bodell A., Nelis E., RA van Broeckhoven C., Lupski J.R.; RT "Clinical phenotypes of different MPZ (P0) mutations may include Charcot- RT Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination."; RL Neuron 17:451-460(1996). RN [28] RP VARIANT CMT1B GLU-93. RX PubMed=9217235; RX DOI=10.1002/(sici)1096-8628(19970808)71:2<246::aid-ajmg28>3.0.co;2-d; RA Ikegami T., Ikeda H., Mitsui T., Hayasaka K., Ishii S.; RT "Novel mutation of the myelin Po gene in a pedigree with Charcot-Marie- RT Tooth disease type 1B."; RL Am. J. Med. Genet. 71:246-248(1997). RN [29] RP VARIANT CMT1B LEU-78, AND VARIANT DSS CYS-98. RX PubMed=9187667; DOI=10.1007/s004390050442; RA Bort S., Nelis E., Timmerman V., Sevilla T., Cruz-Martinez A., Martinez F., RA Millan J.M., Arpa J., Vilchez J.J., Prieto F., van Broeckhoven C., RA Palau F.; RT "Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of RT Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy RT with liability to pressure palsies."; RL Hum. Genet. 99:746-754(1997). RN [30] RP VARIANT CMT1B ARG-81. RX PubMed=8990016; RX DOI=10.1002/(sici)1098-1004(1997)9:1<74::aid-humu16>3.0.co;2-m; RA Sorour E., Macmillan J., Upadhyaya M.; RT "Novel mutation of the myelin P0 gene in a CMT1B family."; RL Hum. Mutat. 9:74-77(1997). RN [31] RP VARIANTS DSS THR-114; HIS-116 AND ASN-128. RX PubMed=9222756; RX DOI=10.1002/(sici)1098-1004(1997)10:1<21::aid-humu3>3.0.co;2-p; RA Warner L.E., Shohat M., Shorer Z., Lupski J.R.; RT "Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas RT case."; RL Hum. Mutat. 10:21-24(1997). RN [32] RP VARIANT DSS PHE-TYR-118 INS. RX PubMed=9452055; DOI=10.1002/humu.1380110134; RA Ikegami T., Nicholson G.A., Ikeda H., Ishida A., Johnston H., Wise G., RA Ouvrier R.A., Hayasaka K.; RT "De novo mutation of the myelin P0 gene in Dejerine-Sottas disease RT (hereditary motor and sensory neuropathy type III): two amino acid RT insertion after Asp 118."; RL Hum. Mutat. Suppl. 1:S103-S105(1998). RN [33] RP VARIANT CMT1B MET-124, AND VARIANT DSS 124-THR-PHE-125 DEL. RX PubMed=9452091; DOI=10.1002/humu.1380110170; RA Schiavon F., Rampazzo A., Merlini L., Angelini C., Mostacciuolo M.L.; RT "Mutations of the same sequence of the myelin P0 gene causing two different RT phenotypes."; RL Hum. Mutat. Suppl. 1:S217-S219(1998). RN [34] RP VARIANTS CMT1B PHE-58; CYS-68; THR-112; LEU-132 AND ALA-167. RX PubMed=9452099; DOI=10.1002/humu.1380110178; RA Sorour E., Upadhyaya M.; RT "Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1)."; RL Hum. Mutat. Suppl. 1:S242-S247(1998). RN [35] RP VARIANT CMT1B LEU-78, AND VARIANT DSS CYS-82. RX PubMed=9633821; RX DOI=10.1002/(sici)1098-1004(1998)12:1<59::aid-humu9>3.0.co;2-a; RA Silander K., Meretoja P., Juvonen V., Ignatius J., Pihko H., Saarinen A., RA Wallden T., Herrgaard E., Aula P., Savontaus M.-L.; RT "Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease RT and related neuropathies."; RL Hum. Mutat. 12:59-68(1998). RN [36] RP VARIANT CMT2I PHE-44. RX PubMed=9595994; DOI=10.1212/wnl.50.5.1397; RA Marrosu M.G., Vaccargiu S., Marrosu G., Vannelli A., Cianchetti C., RA Muntoni F.; RT "Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin RT protein zero gene."; RL Neurology 50:1397-1401(1998). RN [37] RP VARIANT CHN2 215-GLN--LYS-248 DEL, AND INVOLVEMENT IN CHN2. RX PubMed=10319895; RX DOI=10.1002/1531-8249(199905)45:5<676::aid-ana21>3.0.co;2-k; RA Mandich P., Mancardi G.L., Varese A., Soriani S., Di Maria E., Bellone E., RA Bado M., Gross L., Windebank A.J., Ajmar F., Schenone A.; RT "Congenital hypomyelination due to myelin protein zero Q215X mutation."; RL Ann. Neurol. 45:676-678(1999). RN [38] RP VARIANT ROULS LYS-131. RX PubMed=10553995; RX DOI=10.1002/1531-8249(199911)46:5<770::aid-ana13>3.0.co;2-u; RA Plante-Bordeneuve V., Guiochon-Mantel A., Lacroix C., Lapresle J., Said G.; RT "The Roussy-Levy family: from the original description to the gene."; RL Ann. Neurol. 46:770-773(1999). RN [39] RP VARIANT CMT2J MET-124. RX PubMed=10071056; DOI=10.1093/brain/122.2.281; RA De Jonghe P., Timmerman V., Ceuterick C., Nelis E., De Vriendt E., RA Lofgren A., Vercruyssen A., Verellen C., Van Maldergem L., Martin J.-J., RA Van Broeckhoven C.; RT "The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is RT associated with a clinically distinct Charcot-Marie-Tooth phenotype."; RL Brain 122:281-290(1999). RN [40] RP VARIANT CMT1B PRO-54. RA Bissar-Tadmouri N., Latour P., Gulsen-Parman Y., Deymeer F., Serdaroglu P., RA Ozdemir C., Vandenberghe A.; RT "Novel mutations of the myelin P0 gene in two Charcot-Marie-Tooth type 1 RT patients from Turkey."; RL Eur. J. Hum. Genet. Suppl. 7:116-116(1999). RN [41] RP VARIANT DSS TYR-127, AND VARIANTS CMT1B GLU-128 AND MET-143. RX PubMed=9888385; RX DOI=10.1002/(sici)1098-1004(1999)13:1<11::aid-humu2>3.0.co;2-a; RA Nelis E., Haites N., van Broeckhoven C.; RT "Mutations in the peripheral myelin genes and associated genes in inherited RT peripheral neuropathies."; RL Hum. Mutat. 13:11-28(1999). RN [42] RP VARIANT CMT2 MET-124. RX PubMed=10329755; DOI=10.1136/jnnp.66.6.779; RA Chapon F., Latour P., Diraison P., Schaeffer S., Vandenberghe A.; RT "Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation RT in the myelin protein zero gene."; RL J. Neurol. Neurosurg. Psych. 66:779-782(1999). RN [43] RP VARIANT CMTDID TYR-35. RX PubMed=10406984; DOI=10.1136/jnnp.67.2.174; RA Mastaglia F.L., Nowak K.J., Stell R., Phillips B.A., Edmondston J.E., RA Dorosz S.M., Wilton S.D., Hallmayer J., Kakulas B.A., Laing N.G.; RT "Novel mutation in the myelin protein zero gene in a family with RT intermediate hereditary motor and sensory neuropathy."; RL J. Neurol. Neurosurg. Psych. 67:174-179(1999). RN [44] RP VARIANT CMT1B PHE-62. RX PubMed=10214757; DOI=10.1212/wnl.52.6.1271; RA Nakagawa M., Suehara M., Saito A., Takashima H., Umehara F., Saito M., RA Kanzato N., Matsuzaki T., Takenaga S., Sakoda S., Izumo S., Osame M.; RT "A novel MPZ gene mutation in dominantly inherited neuropathy with focally RT folded myelin sheaths."; RL Neurology 52:1271-1275(1999). RN [45] RP VARIANT CMT1B ASN-109, AND FUNCTION. RX PubMed=10545037; DOI=10.1016/s0960-8966(99)00031-0; RA Lagueny A., Latour P., Vital A., Rajabally Y., Le Masson G., Ferrer X., RA Bernard I., Julien J., Vital C., Vandenberghe A.; RT "Peripheral myelin modification in CMT1B correlates with MPZ gene RT mutations."; RL Neuromuscul. Disord. 9:361-367(1999). RN [46] RP VARIANT CMT1B LEU-78. RX PubMed=10965800; DOI=10.1007/s004019900175; RA Fabrizi G.M., Taioli F., Cavallaro T., Rigatelli F., Simonati A., RA Mariani G., Perrone P., Rizzuto N.; RT "Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with RT Ser49Leu in the myelin protein zero."; RL Acta Neuropathol. 100:299-304(2000). RN [47] RP VARIANTS CMT2I GLY-61 AND CYS-119. RX PubMed=10764043; DOI=10.1111/j.1750-3639.2000.tb00257.x; RA Senderek J., Hermanns B., Lehmann U., Bergmann C., Marx G., Kabus C., RA Timmerman V., Stoltenburg-Didinger G., Schroder J.M.; RT "Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel RT amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible 'hotspot' on RT Thr124Met."; RL Brain Pathol. 10:235-248(2000). RN [48] RP VARIANTS CMT1B HIS-98; GLY-134; GLU-134; THR-135; ASN-138 AND ASN-139. RX PubMed=10737979; RX DOI=10.1002/(sici)1098-1004(200004)15:4<340::aid-humu6>3.0.co;2-y; RA Mersiyanova I.V., Ismailov S.M., Polyakov A.V., Dadali E.L., Fedotov V.P., RA Nelis E., Loefgren A., Timmerman V., Van Broeckhoven C., Evgrafov O.V.; RT "Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 RT (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients."; RL Hum. Mutat. 15:340-347(2000). RN [49] RP VARIANTS CMT PHE-32; CYS-68; MET-124 AND ARG-130. RX PubMed=10923043; RX DOI=10.1002/1098-1004(200008)16:2<177::aid-humu14>3.0.co;2-5; RA Yoshihara T., Yamamoto M., Doyu M., Misu K., Hattori N., Hasegawa Y., RA Mokuno K., Mitsuma T., Sobue G.; RT "Mutations in the peripheral myelin protein zero and connexin32 genes RT detected by non-isotopic RNase cleavage assay and their phenotypes in RT Japanese patients with Charcot-Marie-Tooth disease."; RL Hum. Mutat. 16:177-178(2000). RN [50] RP VARIANTS CMT2J VAL-75 AND MET-124. RX PubMed=11080237; DOI=10.1136/jnnp.69.6.806; RA Misu K., Yoshihara T., Shikama Y., Awaki E., Yamamoto M., Hattori N., RA Hirayama M., Takegami T., Nakashima K., Sobue G.; RT "An axonal form of Charcot-Marie-Tooth disease showing distinctive features RT in association with mutations in the peripheral myelin protein zero gene RT (Thr124Met or Asp75Val)."; RL J. Neurol. Neurosurg. Psych. 69:806-811(2000). RN [51] RP VARIANTS CMT1B PHE-63 AND MET-124, AND VARIANTS DSS CYS-98 AND RP 124-THR-PHE-125 DEL. RX PubMed=11438991; DOI=10.1002/humu.1147; RA Mostacciuolo M.L., Righetti E., Zortea M., Bosello V., Schiavon F., RA Vallo L., Merlini L., Siciliano G., Fabrizi G.M., Rizzuto N., Milani M., RA Baratta S., Taroni F.; RT "Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: RT mutation analysis in a large cohort of Italian families."; RL Hum. Mutat. 18:32-41(2001). RN [52] RP VARIANTS CMT1B PHE-51; LEU-78 AND HIS-98. RX PubMed=11437164; DOI=10.1007/s004150170183; RA Young P., Grote K., Kuhlenbaeumer G., Debus O., Kurlemann H., Halfter H., RA Funke H., Ringelstein E.B., Stoegbauer F.; RT "Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations RT in the MPZ gene and the GJB1 gene cause comparable phenotypic RT heterogeneity."; RL J. Neurol. 248:410-415(2001). RN [53] RP VARIANTS DSS VAL-42 DEL AND THR-221. RX PubMed=11596785; DOI=10.1007/s004150170096; RA Plante-Bordeneuve V., Parman Y., Guiochon-Mantel A., Alj Y., Deymeer F., RA Serdaroglu P., Eraksoy M., Said G.; RT "The range of chronic demyelinating neuropathy of infancy: a clinico- RT pathological and genetic study of 15 unrelated cases."; RL J. Neurol. 248:795-803(2001). RN [54] RP VARIANT CMT1B GLU-103. RX PubMed=11445635; DOI=10.1212/wnl.57.1.101; RA Fabrizi G.M., Ferrarini M., Cavallaro T., Jarre L., Polo A., Rizzuto N.; RT "A somatic and germline mosaic mutation in MPZ/P(0) mimics recessive RT inheritance of CMT1B."; RL Neurology 57:101-105(2001). RN [55] RP VARIANTS CMT1B LEU-78 AND CYS-82, VARIANTS CMT2I ASN-89; MET-92 AND RP MET-162, AND VARIANTS DSS CYS-123 AND GLU-136. RX PubMed=11835375; DOI=10.1002/ana.10089; RA Boerkoel C.F., Takashima H., Garcia C.A., Olney R.K., Johnson J., Berry K., RA Russo P., Kennedy S., Teebi A.S., Scavina M., Williams L.L., Mancias P., RA Butler I.J., Krajewski K., Shy M., Lupski J.R.; RT "Charcot-Marie-Tooth disease and related neuropathies: mutation RT distribution and genotype-phenotype correlation."; RL Ann. Neurol. 51:190-201(2002). RN [56] RP VARIANTS CMT1B SER-63 DEL; ILE-65; CYS-68; CYS-82; MET-124; ARG-163 AND RP ARG-170, AND VARIANTS CMT2 VAL-75 AND ILE-113. RX PubMed=12402337; DOI=10.1002/humu.10134; RA Numakura C., Lin C., Ikegami T., Guldberg P., Hayasaka K.; RT "Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: RT DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations."; RL Hum. Mutat. 20:392-398(2002). RN [57] RP VARIANT CMT1B HIS-98. RX PubMed=12221176; DOI=10.1212/wnl.59.5.767; RA Watanabe M., Yamamoto N., Ohkoshi N., Nagata H., Kohno Y., Hayashi A., RA Tamaoka A., Shoji S.; RT "Corticosteroid-responsive asymmetric neuropathy with a myelin protein zero RT gene mutation."; RL Neurology 59:767-769(2002). RN [58] RP VARIANTS CMTDID TYR-81 AND PHE-113. RX PubMed=11801400; DOI=10.1016/s0960-8966(01)00281-4; RA Bienfait H.M.E., Baas F., Gabreeels-Festen A.A.W.M., Koelman J.H.T.M., RA Langerhorst C.T., de Visser M.; RT "Two amino-acid substitutions in the myelin protein zero gene of a case of RT Charcot-Marie-Tooth disease associated with light-near dissociation."; RL Neuromuscul. Disord. 12:281-285(2002). RN [59] RP VARIANTS CMT1B THR-140; ARG-163 AND LYS-236 DEL. RX PubMed=12207932; DOI=10.1016/s0960-8966(02)00021-4; RA Street V.A., Meekins G., Lipe H.P., Seltzer W.K., Carter G.T., Kraft G.H., RA Bird T.D.; RT "Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel RT mutations in the MPZ and Cx 32 genes."; RL Neuromuscul. Disord. 12:643-650(2002). RN [60] RP VARIANTS CMT1B TYR-35; PHE-62; SER-63 DEL; CYS-68; GLU-93; CYS-98 AND RP PHE-146, AND VARIANTS CMT2I VAL-75; ARG-81; MET-124; ARG-130 AND ARG-167. RX PubMed=12477701; DOI=10.1093/brain/awg012; RG The study group for hereditary neuropathy in Japan; RA Hattori N., Yamamoto M., Yoshihara T., Koike H., Nakagawa M., Yoshikawa H., RA Ohnishi A., Hayasaka K., Onodera O., Baba M., Yasuda H., Saito T., RA Nakashima K., Kira J., Kaji R., Oka N., Sobue G.; RT "Demyelinating and axonal features of Charcot-Marie-Tooth disease with RT mutations of myelin-related proteins (PMP22, MPZ and Cx32): a RT clinicopathological study of 205 Japanese patients."; RL Brain 126:134-151(2003). RN [61] RP VARIANT CMT1B LEU-78, AND VARIANT DSS ASP-110. RX PubMed=12497641; DOI=10.1002/humu.9101; RA Huehne K., Benes V., Thiel C., Kraus C., Kress W., Hoeltzenbein M., RA Ploner C.J., Kotzian J., Reis A., Rott H.D., Rautenstrauss B.W.; RT "Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and RT GJB1."; RL Hum. Mutat. 21:100-100(2003). RN [62] RP VARIANT CMT1B TRP-78. RX PubMed=12707985; DOI=10.1002/mus.10344; RA Kakar R., Ma W., Dutra A., Seltzer W.K., Grewal R.P.; RT "Clinical and genetic analysis of CMT1B in a Nigerian family."; RL Muscle Nerve 27:628-630(2003). RN [63] RP VARIANT CMT1B SER-145. RX PubMed=12845552; DOI=10.1007/s10048-003-0153-0; RA Leal A., Berghoff C., Berghoff M., Del Valle G., Contreras C., Montoya O., RA Hernandez E., Barrantes R., Schloetzer-Schrehardt U., Neundoerfer B., RA Reis A., Rautenstrauss B., Heuss D.; RT "Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin RT protein zero (MPZ, P0) gene causes different phenotypes in homozygous and RT heterozygous carriers within one family."; RL Neurogenetics 4:191-197(2003). RN [64] RP VARIANTS CMT2I HIS-60 AND MET-62. RX PubMed=14638973; DOI=10.1212/01.wnl.0000094197.46109.75; RA Auer-Grumbach M., Strasser-Fuchs S., Robl T., Windpassinger C., Wagner K.; RT "Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in RT the MPZ gene."; RL Neurology 61:1435-1437(2003). RN [65] RP VARIANTS CMT1B PRO-39; PHE-44; CYS-50 DEL; HIS-98; CYS-123; ARG-130; RP THR-140 AND SER-227. RX PubMed=14711881; DOI=10.1093/brain/awh048; RA Shy M.E., Jani A., Krajewski K., Grandis M., Lewis R.A., Li J., Shy R.R., RA Balsamo J., Lilien J., Garbern J.Y., Kamholz J.; RT "Phenotypic clustering in MPZ mutations."; RL Brain 127:371-384(2004). RN [66] RP VARIANT CMT2 LYS-56. RX PubMed=14871447; DOI=10.1111/j.1085-9489.2004.09101.x; RA Kochanski A., Kabzinska D., Nowakowski A., Drac H., RA Hausmanowa-Petrusewicz I.; RT "An axonal form of Charcot-Marie-Tooth disease with a novel missense RT mutation in the myelin protein zero gene."; RL J. Peripher. Nerv. Syst. 9:1-2(2004). RN [67] RP VARIANTS CMT2I ASN-118 AND GLU-236. RX PubMed=15241803; DOI=10.1002/humu.9261; RA Choi B.-O., Lee M.S., Shin S.H., Hwang J.H., Choi K.-G., Kim W.-K., RA Sunwoo I.N., Kim N.K., Chung K.W.; RT "Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot- RT Marie-Tooth neuropathy patients."; RL Hum. Mutat. 24:185-186(2004). RN [68] RP VARIANT CHN2 LYS-124. RX PubMed=15184631; DOI=10.1212/01.wnl.0000127606.93772.3a; RA Kochanski A., Drac H., Kabzinska D., Ryniewicz B., Rowinska-Marcinska K., RA Nowakowski A., Hausmanowa-Petrusewicz I.; RT "A novel MPZ gene mutation in congenital neuropathy with hypomyelination."; RL Neurology 62:2122-2123(2004). RN [69] RP VARIANT CMT2J VAL-97. RX PubMed=15326256; DOI=10.1212/01.wnl.0000134605.61307.de; RA Seeman P., Mazanec R., Huehne K., Suslikova P., Keller O., RA Rautenstrauss B.; RT "Hearing loss as the first feature of late-onset axonal CMT disease due to RT a novel P0 mutation."; RL Neurology 63:733-735(2004). RN [70] RP VARIANT CMT1B TYR-224. RX PubMed=16488608; DOI=10.1016/j.nmd.2006.01.006; RA Fabrizi G.M., Pellegrini M., Angiari C., Cavallaro T., Morini A., RA Taioli F., Cabrini I., Orrico D., Rizzuto N.; RT "Gene dosage sensitivity of a novel mutation in the intracellular domain of RT P0 associated with Charcot-Marie-Tooth disease type 1B."; RL Neuromuscul. Disord. 16:183-187(2006). RN [71] RP CHARACTERIZATION OF VARIANTS CMT1B 51-SER--TRP-57 DEL; PRO-39; ARG-81 AND RP MET-124, FUNCTION, AND SUBCELLULAR LOCATION. RX PubMed=18337304; DOI=10.1093/hmg/ddn083; RA Grandis M., Vigo T., Passalacqua M., Jain M., Scazzola S., La Padula V., RA Brucal M., Benvenuto F., Nobbio L., Cadoni A., Mancardi G.L., Kamholz J., RA Shy M.E., Schenone A.; RT "Different cellular and molecular mechanisms for early and late-onset RT myelin protein zero mutations."; RL Hum. Mol. Genet. 17:1877-1889(2008). RN [72] RP VARIANT CMT2 MET-124. RX PubMed=15159512; DOI=10.1212/01.wnl.0000125287.98456.23; RA Baloh R.H., Jen J.C., Kim G., Baloh R.W.; RT "Chronic cough due to Thr124Met mutation in the peripheral myelin protein RT zero (MPZ gene)."; RL Neurology 62:1905-1906(2004). RN [73] RP VARIANT CMT1B ALA-65. RX PubMed=15036333; DOI=10.1016/j.nmd.2003.12.001; RA Kochanski A., Drac H., Kabzinska D., Hausmanowa-Petrusewicz I.; RT "A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot- RT Marie-Tooth type 1B disease with focally folded myelin."; RL Neuromuscul. Disord. 14:229-232(2004). RN [74] RP VARIANT CMT2J MET-124, AND INVOLVEMENT IN ADIE PUPIL. RX PubMed=16775239; DOI=10.1056/nejmcpc069009; RA Triggs W.J., Brown R.H. Jr., Menkes D.L.; RT "Case records of the Massachusetts General Hospital. Case 18-2006. A 57- RT year-old woman with numbness and weakness of the feet and legs."; RL N. Engl. J. Med. 354:2584-2592(2006). CC -!- FUNCTION: Is an adhesion molecule necessary for normal myelination in CC the peripheral nervous system. It mediates adhesion between adjacent CC myelin wraps and ultimately drives myelin compaction. CC {ECO:0000269|PubMed:10545037, ECO:0000269|PubMed:18337304}. CC -!- SUBUNIT: Homodimer and homotetramer. {ECO:0000305|PubMed:21971831}. CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18337304}; CC Single-pass type I membrane protein. CC -!- SUBCELLULAR LOCATION: [Isoform L-MPZ]: Myelin membrane CC {ECO:0000269|PubMed:22457349}; Single-pass type I membrane protein CC {ECO:0000269|PubMed:22457349}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=1; CC IsoId=P25189-1; Sequence=Displayed; CC Name=L-MPZ; CC IsoId=P25189-2; Sequence=VSP_045844; CC -!- TISSUE SPECIFICITY: Found only in peripheral nervous system Schwann CC cells. CC -!- PTM: N-glycosylated; contains sulfate-substituted glycan. CC {ECO:0000250}. CC -!- DISEASE: Charcot-Marie-Tooth disease, demyelinating, 1B (CMT1B) CC [MIM:118200]: A dominant demyelinating form of Charcot-Marie-Tooth CC disease, a disorder of the peripheral nervous system, characterized by CC progressive weakness and atrophy, initially of the peroneal muscles and CC later of the distal muscles of the arms. Charcot-Marie-Tooth disease is CC classified in two main groups on the basis of electrophysiologic CC properties and histopathology: primary peripheral demyelinating CC neuropathies (designated CMT1 when they are dominantly inherited) and CC primary peripheral axonal neuropathies (CMT2). Demyelinating CC neuropathies are characterized by severely reduced nerve conduction CC velocities (less than 38 m/sec), segmental demyelination and CC remyelination with onion bulb formations on nerve biopsy, slowly CC progressive distal muscle atrophy and weakness, absent deep tendon CC reflexes, and hollow feet. {ECO:0000269|PubMed:10214757, CC ECO:0000269|PubMed:10545037, ECO:0000269|PubMed:10737979, CC ECO:0000269|PubMed:10965800, ECO:0000269|PubMed:11437164, CC ECO:0000269|PubMed:11438991, ECO:0000269|PubMed:11445635, CC ECO:0000269|PubMed:11835375, ECO:0000269|PubMed:12207932, CC ECO:0000269|PubMed:12221176, ECO:0000269|PubMed:12402337, CC ECO:0000269|PubMed:12477701, ECO:0000269|PubMed:12497641, CC ECO:0000269|PubMed:12707985, ECO:0000269|PubMed:12845552, CC ECO:0000269|PubMed:14711881, ECO:0000269|PubMed:15036333, CC ECO:0000269|PubMed:16488608, ECO:0000269|PubMed:18337304, CC ECO:0000269|PubMed:7504284, ECO:0000269|PubMed:7505151, CC ECO:0000269|PubMed:7527371, ECO:0000269|PubMed:7530774, CC ECO:0000269|PubMed:7550231, ECO:0000269|PubMed:7688964, CC ECO:0000269|PubMed:7693129, ECO:0000269|PubMed:7693130, CC ECO:0000269|PubMed:7694726, ECO:0000269|PubMed:8664899, CC ECO:0000269|PubMed:8797476, ECO:0000269|PubMed:8816708, CC ECO:0000269|PubMed:8835320, ECO:0000269|PubMed:8844219, CC ECO:0000269|PubMed:8990016, ECO:0000269|PubMed:9187667, CC ECO:0000269|PubMed:9217235, ECO:0000269|PubMed:9452091, CC ECO:0000269|PubMed:9452099, ECO:0000269|PubMed:9633821, CC ECO:0000269|PubMed:9888385, ECO:0000269|Ref.40}. Note=The disease is CC caused by variants affecting the gene represented in this entry. CC -!- DISEASE: Charcot-Marie-Tooth disease, axonal, 2I (CMT2I) [MIM:607677]: CC A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of CC the peripheral nervous system, characterized by progressive weakness CC and atrophy, initially of the peroneal muscles and later of the distal CC muscles of the arms. Charcot-Marie-Tooth disease is classified in two CC main groups on the basis of electrophysiologic properties and CC histopathology: primary peripheral demyelinating neuropathies CC (designated CMT1 when they are dominantly inherited) and primary CC peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group CC are characterized by signs of axonal degeneration in the absence of CC obvious myelin alterations, normal or slightly reduced nerve conduction CC velocities, and progressive distal muscle weakness and atrophy. CC {ECO:0000269|PubMed:10764043, ECO:0000269|PubMed:11835375, CC ECO:0000269|PubMed:12477701, ECO:0000269|PubMed:14638973, CC ECO:0000269|PubMed:15241803, ECO:0000269|PubMed:9595994}. Note=The CC disease is caused by variants affecting the gene represented in this CC entry. CC -!- DISEASE: Charcot-Marie-Tooth disease, axonal, 2J (CMT2J) [MIM:607736]: CC A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of CC the peripheral nervous system, characterized by progressive weakness CC and atrophy, initially of the peroneal muscles and later of the distal CC muscles of the arms. Charcot-Marie-Tooth disease is classified in two CC main groups on the basis of electrophysiologic properties and CC histopathology: primary peripheral demyelinating neuropathies CC (designated CMT1 when they are dominantly inherited) and primary CC peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group CC are characterized by signs of axonal degeneration in the absence of CC obvious myelin alterations, normal or slightly reduced nerve conduction CC velocities, and progressive distal muscle weakness and atrophy. CC Charcot-Marie-Tooth disease type 2J is characterized by the association CC of axonal peripheral neuropathy with hearing loss and pupillary CC abnormalities such as Adie pupil. {ECO:0000269|PubMed:10071056, CC ECO:0000269|PubMed:11080237, ECO:0000269|PubMed:15326256, CC ECO:0000269|PubMed:16775239}. Note=The disease is caused by variants CC affecting the gene represented in this entry. CC -!- DISEASE: Adie pupil (ADIEP) [MIM:103100]: A stationary, benign disorder CC characterized by tonic, sluggishly reacting pupil and hypoactive or CC absent tendon reflexes. Adie pupil is a characteristic of Charcot- CC Marie-Tooth disease type 2J. {ECO:0000269|PubMed:16775239}. Note=The CC disease is caused by variants affecting the gene represented in this CC entry. CC -!- DISEASE: Charcot-Marie-Tooth disease, dominant intermediate D (CMTDID) CC [MIM:607791]: A form of Charcot-Marie-Tooth disease, a disorder of the CC peripheral nervous system, characterized by progressive weakness and CC atrophy, initially of the peroneal muscles and later of the distal CC muscles of the arms. The dominant intermediate type D is characterized CC by clinical and pathologic features intermediate between demyelinating CC and axonal peripheral neuropathies, and motor median nerve conduction CC velocities ranging from 25 to 45 m/sec. {ECO:0000269|PubMed:10406984, CC ECO:0000269|PubMed:11801400}. Note=The disease may be caused by CC variants affecting the gene represented in this entry. CC -!- DISEASE: Dejerine-Sottas syndrome (DSS) [MIM:145900]: A severe CC degenerating neuropathy of the demyelinating Charcot-Marie-Tooth CC disease category, with onset by age 2 years. Characterized by motor and CC sensory neuropathy with very slow nerve conduction velocities, CC increased cerebrospinal fluid protein concentrations, hypertrophic CC nerve changes, delayed age of walking as well as areflexia. There are CC both autosomal dominant and autosomal recessive forms of Dejerine- CC Sottas syndrome. {ECO:0000269|PubMed:11438991, CC ECO:0000269|PubMed:11596785, ECO:0000269|PubMed:11835375, CC ECO:0000269|PubMed:12497641, ECO:0000269|PubMed:7506095, CC ECO:0000269|PubMed:8630052, ECO:0000269|PubMed:8816708, CC ECO:0000269|PubMed:9187667, ECO:0000269|PubMed:9222756, CC ECO:0000269|PubMed:9452055, ECO:0000269|PubMed:9452091, CC ECO:0000269|PubMed:9633821, ECO:0000269|PubMed:9888385}. Note=The CC disease is caused by variants affecting the gene represented in this CC entry. CC -!- DISEASE: Roussy-Levy syndrome (ROULS) [MIM:180800]: Autosomal dominant CC disorder that resembles Charcot-Marie-Tooth disease type 1 in that it CC presents with foot deformity, weakness and atrophy of distal limb CC muscles, especially the peronei, and absent tendon reflexes. The CC phenotype differs, however, in that it includes static tremor of the CC upper limbs and gait ataxia. {ECO:0000269|PubMed:10553995}. Note=The CC disease is caused by variants affecting the gene represented in this CC entry. CC -!- DISEASE: Neuropathy, congenital hypomyelinating, 2 (CHN2) [MIM:618184]: CC A form of congenital hypomyelinating neuropathy, a neurologic disorder CC characterized by early-onset hypotonia, areflexia, distal muscle CC weakness, and very slow nerve conduction velocities (NCV) resulting CC from improper myelination of axons. In its extreme form, it may present CC with severe joint contractures or arthrogryposis multiplex congenita CC and respiratory insufficiency. In less severe cases patients may CC achieve walking. Patients lack both active myelin breakdown and well- CC organized onion bulbs on sural nerve biopsies, have absence of CC inflammation, and show hypomyelination of most or all fibers. CHN2 CC inheritance is autosomal dominant. {ECO:0000269|PubMed:10319895, CC ECO:0000269|PubMed:15184631, ECO:0000269|PubMed:8816708}. Note=The CC disease is caused by variants affecting the gene represented in this CC entry. CC -!- MISCELLANEOUS: [Isoform L-MPZ]: Based on a naturally occurring CC readthrough transcript. Highly antigenic. {ECO:0000305}. CC -!- SIMILARITY: Belongs to the myelin P0 protein family. {ECO:0000305}. CC -!- SEQUENCE CAUTION: CC Sequence=AAH06491.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; CC Sequence=AAP35411.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; CC Sequence=BAA03540.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; CC Sequence=BAG36330.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; CC Sequence=EAW52606.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; CC -!- WEB RESOURCE: Name=Inherited peripheral neuropathies mutation db; CC URL="https://uantwerpen.vib.be/CMTMutations"; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; D10537; BAA01395.1; -; mRNA. DR EMBL; D14720; BAA03540.1; ALT_INIT; Genomic_DNA. DR EMBL; L24893; AAA20656.1; -; Genomic_DNA. DR EMBL; L24894; AAA20656.1; JOINED; Genomic_DNA. DR EMBL; AK313555; BAG36330.1; ALT_INIT; mRNA. DR EMBL; BT006765; AAP35411.1; ALT_INIT; mRNA. DR EMBL; AL592295; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; CH471121; EAW52606.1; ALT_INIT; Genomic_DNA. DR EMBL; BC006491; AAH06491.1; ALT_INIT; mRNA. DR EMBL; S66705; AAB28708.1; -; mRNA. DR EMBL; U10018; AAA18981.1; -; Genomic_DNA. DR EMBL; U10017; AAA18981.1; JOINED; Genomic_DNA. DR CCDS; CCDS1229.2; -. [P25189-1] DR PIR; JH0252; JH0252. DR RefSeq; NP_000521.2; NM_000530.7. [P25189-1] DR RefSeq; NP_001302420.1; NM_001315491.1. DR PDB; 3OAI; X-ray; 2.10 A; A/B=30-150. DR PDB; 8IIA; X-ray; 2.09 A; A=30-150. DR PDBsum; 3OAI; -. DR PDBsum; 8IIA; -. DR AlphaFoldDB; P25189; -. DR SASBDB; P25189; -. DR SMR; P25189; -. DR BioGRID; 110499; 5. DR IntAct; P25189; 3. DR UniLectin; P25189; -. DR GlyConnect; 1526; 15 N-Linked glycans (1 site). DR GlyCosmos; P25189; 1 site, 15 glycans. DR GlyGen; P25189; 1 site, 15 N-linked glycans (1 site). DR iPTMnet; P25189; -. DR PhosphoSitePlus; P25189; -. DR SwissPalm; P25189; -. DR BioMuta; MPZ; -. DR DMDM; 127721; -. DR jPOST; P25189; -. DR MassIVE; P25189; -. DR MaxQB; P25189; -. DR PaxDb; 9606-ENSP00000432943; -. DR PeptideAtlas; P25189; -. DR ProteomicsDB; 54264; -. [P25189-1] DR Antibodypedia; 34307; 439 antibodies from 38 providers. DR DNASU; 4359; -. DR Ensembl; ENST00000463290.5; ENSP00000431538.1; ENSG00000158887.19. [P25189-1] DR Ensembl; ENST00000533357.5; ENSP00000432943.1; ENSG00000158887.19. [P25189-1] DR GeneID; 4359; -. DR KEGG; hsa:4359; -. DR MANE-Select; ENST00000533357.5; ENSP00000432943.1; NM_000530.8; NP_000521.2. DR UCSC; uc001gaf.4; human. [P25189-1] DR AGR; HGNC:7225; -. DR CTD; 4359; -. DR DisGeNET; 4359; -. DR GeneCards; MPZ; -. DR HGNC; HGNC:7225; MPZ. DR HPA; ENSG00000158887; Tissue enhanced (brain). DR MalaCards; MPZ; -. DR MIM; 103100; phenotype. DR MIM; 118200; phenotype. DR MIM; 145900; phenotype. DR MIM; 159440; gene. DR MIM; 180800; phenotype. DR MIM; 607677; phenotype. DR MIM; 607736; phenotype. DR MIM; 607791; phenotype. DR MIM; 618184; phenotype. DR neXtProt; NX_P25189; -. DR OpenTargets; ENSG00000158887; -. DR Orphanet; 99942; Autosomal dominant Charcot-Marie-Tooth disease type 2I. DR Orphanet; 99943; Autosomal dominant Charcot-Marie-Tooth disease type 2J. DR Orphanet; 100046; Autosomal dominant intermediate Charcot-Marie-Tooth disease type D. DR Orphanet; 324585; Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain. DR Orphanet; 101082; Charcot-Marie-Tooth disease type 1B. DR Orphanet; 64748; Dejerine-Sottas syndrome. DR Orphanet; 538574; Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome. DR Orphanet; 3115; Roussy-Levy syndrome. DR PharmGKB; PA30930; -. DR VEuPathDB; HostDB:ENSG00000158887; -. DR eggNOG; ENOG502QVJ0; Eukaryota. DR GeneTree; ENSGT01030000234556; -. DR HOGENOM; CLU_090350_3_1_1; -. DR InParanoid; P25189; -. DR OMA; WVGDPHW; -. DR OrthoDB; 4234899at2759; -. DR PhylomeDB; P25189; -. DR TreeFam; TF331728; -. DR PathwayCommons; P25189; -. DR Reactome; R-HSA-9619665; EGR2 and SOX10-mediated initiation of Schwann cell myelination. DR SignaLink; P25189; -. DR SIGNOR; P25189; -. DR BioGRID-ORCS; 4359; 10 hits in 1158 CRISPR screens. DR ChiTaRS; MPZ; human. DR GeneWiki; Myelin_protein_zero; -. DR GenomeRNAi; 4359; -. DR Pharos; P25189; Tbio. DR PRO; PR:P25189; -. DR Proteomes; UP000005640; Chromosome 1. DR RNAct; P25189; Protein. DR Bgee; ENSG00000158887; Expressed in tibial nerve and 107 other cell types or tissues. DR ExpressionAtlas; P25189; baseline and differential. DR GO; GO:0043209; C:myelin sheath; IEA:UniProtKB-SubCell. DR GO; GO:0005886; C:plasma membrane; IDA:UniProtKB. DR GO; GO:0045202; C:synapse; IEA:GOC. DR GO; GO:0005198; F:structural molecule activity; NAS:ProtInc. DR GO; GO:0098743; P:cell aggregation; IMP:UniProtKB. DR GO; GO:0098742; P:cell-cell adhesion via plasma-membrane adhesion molecules; IMP:UniProtKB. DR GO; GO:0007268; P:chemical synaptic transmission; TAS:ProtInc. DR GO; GO:0042552; P:myelination; IMP:UniProtKB. DR CDD; cd05879; IgV_P0; 1. DR Gene3D; 2.60.40.10; Immunoglobulins; 1. DR InterPro; IPR007110; Ig-like_dom. DR InterPro; IPR036179; Ig-like_dom_sf. DR InterPro; IPR013783; Ig-like_fold. DR InterPro; IPR003599; Ig_sub. DR InterPro; IPR013106; Ig_V-set. DR InterPro; IPR000920; Myelin_P0-rel. DR InterPro; IPR019738; Myelin_P0_CS. DR InterPro; IPR047014; Myelin_P0_Ig-like. DR InterPro; IPR019566; MYP0_C. DR PANTHER; PTHR13869; MYELIN P0 RELATED; 1. DR PANTHER; PTHR13869:SF7; MYELIN PROTEIN P0; 1. DR Pfam; PF10570; Myelin-PO_C; 1. DR Pfam; PF07686; V-set; 1. DR PRINTS; PR00213; MYELINP0. DR SMART; SM00409; IG; 1. DR SMART; SM00406; IGv; 1. DR SUPFAM; SSF48726; Immunoglobulin; 1. DR PROSITE; PS50835; IG_LIKE; 1. DR PROSITE; PS00568; MYELIN_P0; 1. DR Genevisible; P25189; HS. PE 1: Evidence at protein level; KW 3D-structure; Alternative splicing; Cell membrane; KW Charcot-Marie-Tooth disease; Deafness; Dejerine-Sottas syndrome; KW Direct protein sequencing; Disease variant; Disulfide bond; Glycoprotein; KW Immunoglobulin domain; Membrane; Neurodegeneration; Neuropathy; KW Phosphoprotein; Reference proteome; Signal; Transmembrane; KW Transmembrane helix. FT SIGNAL 1..29 FT CHAIN 30..248 FT /note="Myelin protein P0" FT /id="PRO_0000019300" FT TOPO_DOM 30..153 FT /note="Extracellular" FT /evidence="ECO:0000255" FT TRANSMEM 154..179 FT /note="Helical" FT /evidence="ECO:0000255" FT TOPO_DOM 180..248 FT /note="Cytoplasmic" FT /evidence="ECO:0000255" FT DOMAIN 30..143 FT /note="Ig-like V-type" FT REGION 224..248 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 228..248 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT MOD_RES 210 FT /note="Phosphoserine; by PKC" FT /evidence="ECO:0000250|UniProtKB:P10522" FT MOD_RES 226 FT /note="Phosphoserine" FT /evidence="ECO:0000250|UniProtKB:P27573" FT MOD_RES 228 FT /note="Phosphoserine" FT /evidence="ECO:0000250|UniProtKB:P27573" FT MOD_RES 233 FT /note="Phosphoserine; by PKC" FT /evidence="ECO:0000250|UniProtKB:P10522" FT MOD_RES 243 FT /note="Phosphoserine; by PKC" FT /evidence="ECO:0000250|UniProtKB:P10522" FT CARBOHYD 122 FT /note="N-linked (GlcNAc...) (complex) asparagine" FT /evidence="ECO:0000250" FT DISULFID 50..127 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114, FT ECO:0000269|PubMed:21971831" FT VAR_SEQ 248 FT /note="K -> KRLAGRAGDRGLGVESAKGPKVMVIEMELRKDEQSPELRPAVKSPSR FT TSLKNALKNMMGLNSDK (in isoform L-MPZ)" FT /evidence="ECO:0000305" FT /id="VSP_045844" FT VARIANT 30 FT /note="I -> M (in CMT1B; dbSNP:rs770546306)" FT /evidence="ECO:0000269|PubMed:7694726" FT /id="VAR_004500" FT VARIANT 32 FT /note="V -> F (in CMT1B; severe)" FT /evidence="ECO:0000269|PubMed:10923043" FT /id="VAR_004501" FT VARIANT 34 FT /note="T -> I (in CMT1B)" FT /evidence="ECO:0000269|PubMed:8797476" FT /id="VAR_004502" FT VARIANT 35 FT /note="D -> Y (in CMT1B and CMTDID; dbSNP:rs121913596)" FT /evidence="ECO:0000269|PubMed:10406984, FT ECO:0000269|PubMed:12477701" FT /id="VAR_015971" FT VARIANT 39 FT /note="H -> P (in CMT1B; slightly reduces intercellular FT adhesion; does not affect targeting to the cell membrane; FT dbSNP:rs371856018)" FT /evidence="ECO:0000269|PubMed:14711881, FT ECO:0000269|PubMed:18337304" FT /id="VAR_054393" FT VARIANT 42 FT /note="Missing (in DSS)" FT /evidence="ECO:0000269|PubMed:11596785" FT /id="VAR_031884" FT VARIANT 44 FT /note="S -> F (in CMT2I and CMT1B; dbSNP:rs121913598)" FT /evidence="ECO:0000269|PubMed:14711881, FT ECO:0000269|PubMed:9595994" FT /id="VAR_004503" FT VARIANT 50 FT /note="Missing (in CMT1B)" FT /evidence="ECO:0000269|PubMed:14711881" FT /id="VAR_054394" FT VARIANT 51..57 FT /note="Missing (in CMT1B; affects targeting to the cell FT membrane; reduces intercellular adhesion)" FT /evidence="ECO:0000269|PubMed:18337304" FT /id="VAR_054395" FT VARIANT 51 FT /note="S -> F (in CMT1B; dbSNP:rs1553259790)" FT /evidence="ECO:0000269|PubMed:11437164" FT /id="VAR_029971" FT VARIANT 54 FT /note="S -> C (in CMT1B; severe)" FT /id="VAR_004504" FT VARIANT 54 FT /note="S -> P (in CMT1B)" FT /evidence="ECO:0000269|Ref.40" FT /id="VAR_004505" FT VARIANT 56 FT /note="E -> K (in CMT2)" FT /evidence="ECO:0000269|PubMed:14871447" FT /id="VAR_054396" FT VARIANT 58 FT /note="V -> F (in CMT1B; moderate)" FT /evidence="ECO:0000269|PubMed:9452099" FT /id="VAR_004506" FT VARIANT 60 FT /note="D -> H (in CMT2I; dbSNP:rs121913604)" FT /evidence="ECO:0000269|PubMed:14638973" FT /id="VAR_029972" FT VARIANT 61 FT /note="D -> G (in CMT2I; dbSNP:rs786204119)" FT /evidence="ECO:0000269|PubMed:10764043" FT /id="VAR_031885" FT VARIANT 62 FT /note="I -> F (in CMT1B; dbSNP:rs121913602)" FT /evidence="ECO:0000269|PubMed:10214757, FT ECO:0000269|PubMed:12477701" FT /id="VAR_015972" FT VARIANT 62 FT /note="I -> M (in CMT2I; dbSNP:rs121913605)" FT /evidence="ECO:0000269|PubMed:14638973" FT /id="VAR_029973" FT VARIANT 63 FT /note="S -> C (in DSS; dbSNP:rs121913585)" FT /evidence="ECO:0000269|PubMed:7506095" FT /id="VAR_004508" FT VARIANT 63 FT /note="S -> F (in CMT1B; dbSNP:rs121913585)" FT /evidence="ECO:0000269|PubMed:11438991, FT ECO:0000269|PubMed:8835320" FT /id="VAR_004509" FT VARIANT 63 FT /note="Missing (in CMT1B)" FT /evidence="ECO:0000269|PubMed:12402337, FT ECO:0000269|PubMed:12477701, ECO:0000269|PubMed:7693130" FT /id="VAR_004507" FT VARIANT 64 FT /note="Missing (in CMT1B and DSS)" FT /evidence="ECO:0000269|PubMed:8630052" FT /id="VAR_004510" FT VARIANT 65 FT /note="T -> A (in CMT1B; dbSNP:rs1553259760)" FT /evidence="ECO:0000269|PubMed:15036333" FT /id="VAR_031886" FT VARIANT 65 FT /note="T -> I (in CMT1B)" FT /evidence="ECO:0000269|PubMed:12402337" FT /id="VAR_029974" FT VARIANT 68 FT /note="Y -> C (in CMT1B; severe/mild)" FT /evidence="ECO:0000269|PubMed:10923043, FT ECO:0000269|PubMed:12402337, ECO:0000269|PubMed:12477701, FT ECO:0000269|PubMed:9452099" FT /id="VAR_004511" FT VARIANT 75 FT /note="D -> V (in CMT2J and CMT2I; dbSNP:rs121913597)" FT /evidence="ECO:0000269|PubMed:11080237, FT ECO:0000269|PubMed:12402337, ECO:0000269|PubMed:12477701" FT /id="VAR_015973" FT VARIANT 78 FT /note="S -> L (in CMT1B; severe; dbSNP:rs121913601)" FT /evidence="ECO:0000269|PubMed:10965800, FT ECO:0000269|PubMed:11437164, ECO:0000269|PubMed:11835375, FT ECO:0000269|PubMed:12497641, ECO:0000269|PubMed:7527371, FT ECO:0000269|PubMed:7550231, ECO:0000269|PubMed:9187667, FT ECO:0000269|PubMed:9633821" FT /id="VAR_004512" FT VARIANT 78 FT /note="S -> W (in CMT1B; dbSNP:rs121913601)" FT /evidence="ECO:0000269|PubMed:12707985" FT /id="VAR_031887" FT VARIANT 81 FT /note="H -> R (in CMT1B and CMT2I; severe; reduces FT intercellular adhesion; does not affect targeting to the FT cell membrane; dbSNP:rs121913594)" FT /evidence="ECO:0000269|PubMed:12477701, FT ECO:0000269|PubMed:18337304, ECO:0000269|PubMed:8990016" FT /id="VAR_004513" FT VARIANT 81 FT /note="H -> Y (in CMTDID; associated in cis with F-113; FT dbSNP:rs281865123)" FT /evidence="ECO:0000269|PubMed:11801400" FT /id="VAR_031888" FT VARIANT 82 FT /note="Y -> C (in CMT1B and DSS; dbSNP:rs1553259707)" FT /evidence="ECO:0000269|PubMed:11835375, FT ECO:0000269|PubMed:12402337, ECO:0000269|PubMed:7505151, FT ECO:0000269|PubMed:9633821" FT /id="VAR_004514" FT VARIANT 89 FT /note="I -> N (in CMT2I; patient carrying also Met-92 and FT Met-162; dbSNP:rs267607244)" FT /evidence="ECO:0000269|PubMed:11835375" FT /id="VAR_015974" FT VARIANT 90 FT /note="D -> E (in CMT1B; dbSNP:rs121913584)" FT /evidence="ECO:0000269|PubMed:7693129" FT /id="VAR_004515" FT VARIANT 92 FT /note="V -> M (in CMT2I; patient carrying also Asn-89 and FT Met-162; dbSNP:rs267607245)" FT /evidence="ECO:0000269|PubMed:11835375" FT /id="VAR_015975" FT VARIANT 93 FT /note="G -> E (in CMT1B; dbSNP:rs1060503418)" FT /evidence="ECO:0000269|PubMed:12477701, FT ECO:0000269|PubMed:9217235" FT /id="VAR_004516" FT VARIANT 96 FT /note="K -> E (in CMT1B; dbSNP:rs121913583)" FT /evidence="ECO:0000269|PubMed:7504284, FT ECO:0000269|PubMed:7693129" FT /id="VAR_004517" FT VARIANT 97 FT /note="E -> V (in CMT2J; dbSNP:rs121913606)" FT /evidence="ECO:0000269|PubMed:15326256" FT /id="VAR_029975" FT VARIANT 98 FT /note="R -> C (in CMT1B and DSS; severe; FT dbSNP:rs121913590)" FT /evidence="ECO:0000269|PubMed:11438991, FT ECO:0000269|PubMed:12477701, ECO:0000269|PubMed:8797476, FT ECO:0000269|PubMed:8816708, ECO:0000269|PubMed:9187667" FT /id="VAR_004518" FT VARIANT 98 FT /note="R -> H (in CMT1B; dbSNP:rs121913589)" FT /evidence="ECO:0000269|PubMed:10737979, FT ECO:0000269|PubMed:11437164, ECO:0000269|PubMed:12221176, FT ECO:0000269|PubMed:14711881, ECO:0000269|PubMed:7688964, FT ECO:0000269|PubMed:8797476" FT /id="VAR_004519" FT VARIANT 98 FT /note="R -> P (in CMT1B; dbSNP:rs121913589)" FT /id="VAR_004520" FT VARIANT 98 FT /note="R -> S (in CMT1B)" FT /evidence="ECO:0000269|PubMed:8816708" FT /id="VAR_004521" FT VARIANT 99 FT /note="I -> T (in CMT1B)" FT /id="VAR_004522" FT VARIANT 101 FT /note="W -> C (in CMT1B)" FT /evidence="ECO:0000269|PubMed:7550231" FT /id="VAR_004523" FT VARIANT 103 FT /note="G -> E (in CMT1B; dbSNP:rs121913600)" FT /evidence="ECO:0000269|PubMed:11445635" FT /id="VAR_015976" FT VARIANT 109 FT /note="D -> N (in CMT1B; dbSNP:rs1060503420)" FT /evidence="ECO:0000269|PubMed:10545037" FT /id="VAR_031889" FT VARIANT 110 FT /note="G -> D (in DSS)" FT /evidence="ECO:0000269|PubMed:12497641" FT /id="VAR_029976" FT VARIANT 112 FT /note="I -> T (in CMT1B; severe; dbSNP:rs1553259662)" FT /evidence="ECO:0000269|PubMed:9452099" FT /id="VAR_004524" FT VARIANT 113 FT /note="V -> F (in CMTDID; associated in cis with Y-81; FT dbSNP:rs281865126)" FT /evidence="ECO:0000269|PubMed:11801400" FT /id="VAR_031890" FT VARIANT 113 FT /note="V -> I (in CMT2)" FT /evidence="ECO:0000269|PubMed:12402337" FT /id="VAR_029977" FT VARIANT 114 FT /note="I -> T (in DSS; associated in cis with His-116 and FT Asn-128 in one patient; dbSNP:rs267607241)" FT /evidence="ECO:0000269|PubMed:9222756" FT /id="VAR_004525" FT VARIANT 116 FT /note="N -> H (in DSS; associated in cis with Thr-114 and FT Asn-128 in one patient; dbSNP:rs267607242)" FT /evidence="ECO:0000269|PubMed:9222756" FT /id="VAR_004526" FT VARIANT 118 FT /note="D -> DFY (in DSS)" FT /evidence="ECO:0000269|PubMed:9452055" FT /id="VAR_004527" FT VARIANT 118 FT /note="D -> N (in CMT2I)" FT /evidence="ECO:0000269|PubMed:15241803" FT /id="VAR_021609" FT VARIANT 119 FT /note="Y -> C (in CMT2I; dbSNP:rs879254038)" FT /evidence="ECO:0000269|PubMed:10764043" FT /id="VAR_031891" FT VARIANT 122 FT /note="N -> S (in CMT1B; loss of glycosylation site)" FT /evidence="ECO:0000269|PubMed:8844219" FT /id="VAR_004528" FT VARIANT 123 FT /note="G -> C (in DSS and CMT1B)" FT /evidence="ECO:0000269|PubMed:11835375, FT ECO:0000269|PubMed:14711881" FT /id="VAR_015977" FT VARIANT 124..125 FT /note="Missing (in DSS)" FT /evidence="ECO:0000269|PubMed:11438991, FT ECO:0000269|PubMed:9452091" FT /id="VAR_004530" FT VARIANT 124 FT /note="T -> K (in CHN2; dbSNP:rs121913595)" FT /evidence="ECO:0000269|PubMed:15184631" FT /id="VAR_029978" FT VARIANT 124 FT /note="T -> M (in CMT1B, CMT2I and CMT2J; CMTJ2 patients FT present Adie pupil; slightly reduces intercellular FT adhesion; does not affect targeting to the cell membrane; FT affects glycosylation; dbSNP:rs121913595)" FT /evidence="ECO:0000269|PubMed:10071056, FT ECO:0000269|PubMed:10329755, ECO:0000269|PubMed:10923043, FT ECO:0000269|PubMed:11080237, ECO:0000269|PubMed:11438991, FT ECO:0000269|PubMed:12402337, ECO:0000269|PubMed:12477701, FT ECO:0000269|PubMed:15159512, ECO:0000269|PubMed:16775239, FT ECO:0000269|PubMed:18337304, ECO:0000269|PubMed:9452091" FT /id="VAR_004529" FT VARIANT 127 FT /note="C -> Y (in DSS)" FT /evidence="ECO:0000269|PubMed:9888385" FT /id="VAR_004531" FT VARIANT 128 FT /note="D -> E (in CMT1B)" FT /evidence="ECO:0000269|PubMed:9888385" FT /id="VAR_004532" FT VARIANT 128 FT /note="D -> N (in DSS; associated in cis with Thr-114 and FT His-116 in one patient; dbSNP:rs267607243)" FT /evidence="ECO:0000269|PubMed:9222756" FT /id="VAR_004533" FT VARIANT 130 FT /note="K -> R (in CMT1B, CMT2I and DSS; dbSNP:rs281865127)" FT /evidence="ECO:0000269|PubMed:10923043, FT ECO:0000269|PubMed:12477701, ECO:0000269|PubMed:14711881, FT ECO:0000269|PubMed:8797476" FT /id="VAR_004534" FT VARIANT 131 FT /note="N -> K (in ROULS; dbSNP:rs121913599)" FT /evidence="ECO:0000269|PubMed:10553995" FT /id="VAR_015978" FT VARIANT 132 FT /note="P -> L (in CMT1B; moderate)" FT /evidence="ECO:0000269|PubMed:9452099" FT /id="VAR_004535" FT VARIANT 134 FT /note="D -> E (in CMT1B)" FT /evidence="ECO:0000269|PubMed:10737979, FT ECO:0000269|PubMed:7530774" FT /id="VAR_004536" FT VARIANT 134 FT /note="D -> G (in CMT1B)" FT /evidence="ECO:0000269|PubMed:10737979" FT /id="VAR_029979" FT VARIANT 134 FT /note="D -> N (in CMT1B; dbSNP:rs1553259647)" FT /evidence="ECO:0000269|PubMed:7527371" FT /id="VAR_004537" FT VARIANT 135 FT /note="I -> L (in CMT1B and DSS; dbSNP:rs879253858)" FT /evidence="ECO:0000269|PubMed:8797476" FT /id="VAR_004538" FT VARIANT 135 FT /note="I -> T (in CMT1B; dbSNP:rs121913587)" FT /evidence="ECO:0000269|PubMed:10737979, FT ECO:0000269|PubMed:8664899" FT /id="VAR_004539" FT VARIANT 136 FT /note="V -> E (in DSS)" FT /evidence="ECO:0000269|PubMed:11835375" FT /id="VAR_015979" FT VARIANT 137 FT /note="G -> S (in CMT1B; dbSNP:rs121913588)" FT /evidence="ECO:0000269|PubMed:8664899" FT /id="VAR_004540" FT VARIANT 138 FT /note="K -> N (in CMT1B)" FT /evidence="ECO:0000269|PubMed:10737979" FT /id="VAR_029980" FT VARIANT 139 FT /note="T -> N (in CMT1B)" FT /evidence="ECO:0000269|PubMed:10737979" FT /id="VAR_029981" FT VARIANT 140 FT /note="S -> T (in CMT1B; dbSNP:rs572010627)" FT /evidence="ECO:0000269|PubMed:12207932, FT ECO:0000269|PubMed:14711881" FT /id="VAR_029982" FT VARIANT 143 FT /note="T -> M (in CMT1B; dbSNP:rs750724650)" FT /evidence="ECO:0000269|PubMed:9888385" FT /id="VAR_004541" FT VARIANT 145 FT /note="Y -> S (in CMT1B; dbSNP:rs121913603)" FT /evidence="ECO:0000269|PubMed:12845552" FT /id="VAR_029983" FT VARIANT 146 FT /note="V -> F (in CMT1B)" FT /evidence="ECO:0000269|PubMed:12477701" FT /id="VAR_029984" FT VARIANT 162 FT /note="I -> M (in CMT2I; patient carrying also Asn-89 and FT Met-92; dbSNP:rs267607246)" FT /evidence="ECO:0000269|PubMed:11835375" FT /id="VAR_015980" FT VARIANT 163 FT /note="G -> R (in CMT1B; dbSNP:rs281865128)" FT /evidence="ECO:0000269|PubMed:12207932, FT ECO:0000269|PubMed:12402337" FT /id="VAR_004542" FT VARIANT 167 FT /note="G -> A (in CMT1B and DSS; severe)" FT /evidence="ECO:0000269|PubMed:9452099" FT /id="VAR_004543" FT VARIANT 167 FT /note="G -> R (in CMT2I and DSS; dbSNP:rs121913586)" FT /evidence="ECO:0000269|PubMed:12477701, FT ECO:0000269|PubMed:7506095" FT /id="VAR_004544" FT VARIANT 170 FT /note="L -> R (in CMT1B)" FT /evidence="ECO:0000269|PubMed:12402337" FT /id="VAR_029985" FT VARIANT 215..248 FT /note="Missing (in CHN2)" FT /evidence="ECO:0000269|PubMed:10319895, FT ECO:0000269|PubMed:8816708" FT /id="VAR_081765" FT VARIANT 216 FT /note="T -> ER (in CMT1B)" FT /evidence="ECO:0000269|PubMed:7504284" FT /id="VAR_029986" FT VARIANT 221 FT /note="A -> T (in DSS)" FT /evidence="ECO:0000269|PubMed:11596785" FT /id="VAR_031892" FT VARIANT 224 FT /note="D -> Y (in CMT1B; also in two asymptomatic FT individuals from the same family; dbSNP:rs267607247)" FT /evidence="ECO:0000269|PubMed:16488608" FT /id="VAR_054397" FT VARIANT 227 FT /note="R -> S (in CMT1B)" FT /evidence="ECO:0000269|PubMed:14711881" FT /id="VAR_054398" FT VARIANT 236 FT /note="K -> E (in CMT2I)" FT /evidence="ECO:0000269|PubMed:15241803" FT /id="VAR_021610" FT VARIANT 236 FT /note="Missing (in CMT1B)" FT /evidence="ECO:0000269|PubMed:12207932" FT /id="VAR_029987" FT VARIANT 244 FT /note="R -> L (in dbSNP:rs749722729)" FT /id="VAR_004545" FT STRAND 31..34 FT /evidence="ECO:0007829|PDB:8IIA" FT STRAND 36..41 FT /evidence="ECO:0007829|PDB:8IIA" FT STRAND 46..48 FT /evidence="ECO:0007829|PDB:8IIA" FT STRAND 50..53 FT /evidence="ECO:0007829|PDB:8IIA" FT STRAND 63..70 FT /evidence="ECO:0007829|PDB:8IIA" FT STRAND 77..83 FT /evidence="ECO:0007829|PDB:8IIA" FT STRAND 86..89 FT /evidence="ECO:0007829|PDB:8IIA" FT STRAND 91..93 FT /evidence="ECO:0007829|PDB:8IIA" FT TURN 94..97 FT /evidence="ECO:0007829|PDB:8IIA" FT STRAND 99..101 FT /evidence="ECO:0007829|PDB:8IIA" FT HELIX 105..107 FT /evidence="ECO:0007829|PDB:8IIA" FT STRAND 112..114 FT /evidence="ECO:0007829|PDB:8IIA" FT HELIX 119..121 FT /evidence="ECO:0007829|PDB:8IIA" FT STRAND 123..130 FT /evidence="ECO:0007829|PDB:8IIA" FT STRAND 138..148 FT /evidence="ECO:0007829|PDB:8IIA" SQ SEQUENCE 248 AA; 27555 MW; A93F4744DACB0D5E CRC64; MAPGAPSSSP SPILAVLLFS SLVLSPAQAI VVYTDREVHG AVGSRVTLHC SFWSSEWVSD DISFTWRYQP EGGRDAISIF HYAKGQPYID EVGTFKERIQ WVGDPRWKDG SIVIHNLDYS DNGTFTCDVK NPPDIVGKTS QVTLYVFEKV PTRYGVVLGA VIGGVLGVVL LLLLLFYVVR YCWLRRQAAL QRRLSAMEKG KLHKPGKDAS KRGRQTPVLY AMLDHSRSTK AVSEKKAKGL GESRKDKK //