Q01453 (PMP22_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Peripheral myelin protein 22
Short name=PMP-22

Alternative name(s):
Growth arrest-specific protein 3
Short name=GAS-3

Gene names

Name:	PMP22
Synonyms:	GAS3

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	160 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Might be involved in growth regulation, and in myelinization in the peripheral nervous system.
Subcellular location	Cell membrane; Multi-pass membrane protein Ref.10.
Involvement in disease	Defects in PMP22 are the cause of Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220]; also known as hereditary motor and sensory neuropathy IA. CMT1A is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Neuropathies of the CMT1 group are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. CMT1A inheritance is autosomal dominant. Ref.3 Ref.11 Ref.13 Ref.14 Ref.17 Ref.18 Ref.24 Ref.33 Ref.36 Ref.37 Ref.40 Ref.41 Ref.43 Defects in PMP22 are a cause of Dejerine-Sottas syndrome (DSS) [MIM:145900]; also known as Dejerine-Sottas neuropathy (DSN) or hereditary motor and sensory neuropathy III (HMSN3). DSS is a severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. DSS is characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome. Ref.11 Ref.12 Ref.15 Ref.16 Ref.19 Ref.20 Ref.21 Ref.22 Ref.25 Ref.26 Ref.27 Ref.29 Ref.32 Ref.34 Ref.38 Ref.42 Defects in PMP22 are a cause of hereditary neuropathy with liability to pressure palsies (HNPP) [MIM:162500]; an autosomal dominant disorder characterized by transient episodes of decreased perception or peripheral nerve palsies after slight traction, compression or minor traumas. Ref.30 Ref.45 Ref.46 Defects in PMP22 are the cause of Charcot-Marie-Tooth disease type 1E (CMT1E) [MIM:118300]; also known as Charcot-Marie-Tooth disease and deafness autosomal dominant. CMT1E is an autosomal dominant form of Charcot-Marie-Tooth disease characterized by the association of sensorineural hearing loss with peripheral demyelinating neuropathy. Defects in PMP22 may be a cause of inflammatory demyelinating polyneuropathy (IDP) [MIM:139393]. IDP is a putative autoimmune disorder presenting in an acute (AIDP) or chronic form (CIDP). The acute form is also known as Guillain-Barre syndrome. Ref.39
Sequence similarities	Belongs to the PMP-22/EMP/MP20 family.

Ontologies

Keywords
Cellular component	Cell membrane Membrane
Coding sequence diversity	Polymorphism
Disease	Charcot-Marie-Tooth disease Deafness Dejerine-Sottas syndrome Disease mutation Neuropathy
Domain	Transmembrane Transmembrane helix
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	peripheral nervous system development Traceable author statement. Source: ProtInc synaptic transmission Traceable author statement. Source: ProtInc
Cellular component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 160	160	Peripheral myelin protein 22		PRO_0000164650
Regions
	Topological domain	1	1	Cytoplasmic Potential
	Transmembrane	2 – 31	30	Helical; By similarity
	Topological domain	32 – 64	33	Extracellular Potential
	Transmembrane	65 – 91	27	Helical; By similarity
	Topological domain	92 – 95	4	Cytoplasmic Potential
	Transmembrane	96 – 119	24	Helical; By similarity
	Topological domain	120 – 133	14	Extracellular Potential
	Transmembrane	134 – 156	23	Helical; By similarity
	Topological domain	157 – 160	4	Cytoplasmic Potential
Amino acid modifications
	Glycosylation	41	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	12	1	H → Q in DSS. Ref.15		VAR_006359
	Natural variant	16	1	L → P in CMT1A and DSS. Ref.3 Ref.10 Ref.42		VAR_006360
	Natural variant	19	1	L → P in DSS.		VAR_006361
	Natural variant	22	1	S → F in HNPP and CMT1A. Ref.46		VAR_029960
	Natural variant	23	1	T → R in CMT1E. Ref.47		VAR_029961
	Natural variant	25 – 26	2	Missing in CMT1A.		VAR_029962
	Natural variant	28	1	W → R in CMT1E. Ref.40		VAR_029963
	Natural variant	30	1	V → M in HNPP. Ref.30		VAR_009659
	Natural variant	37	1	D → V in CMT1A; with focally folded myelin sheaths. Ref.33		VAR_009660
	Natural variant	65	1	V → F in CMT1A. Ref.43		VAR_029964
	Natural variant	67	1	A → P in CMT1E. Ref.31		VAR_009661
	Natural variant	67	1	A → T in HNPP. Ref.45		VAR_029965
	Natural variant	69	1	M → K in DSS. Ref.11 Ref.12		VAR_006362
	Natural variant	71	1	L → P in DSS. Ref.40		VAR_029966
	Natural variant	72	1	S → L in DSS and CMT1A. Ref.11 Ref.12 Ref.16 Ref.19 Ref.25 Ref.36 Ref.38 Ref.41		VAR_006363
	Natural variant	72	1	S → P in DSS.		VAR_006364
	Natural variant	72	1	S → W in DSS. Ref.20		VAR_006365
	Natural variant	76	1	S → I in DSS. Ref.20		VAR_006366
	Natural variant	79	1	S → C in CMT1A. Ref.11 Ref.13		VAR_006367
	Natural variant	79	1	S → P in DSS. Ref.27		VAR_006368
	Natural variant	80	1	L → P in DSS. Ref.20		VAR_006369
	Natural variant	80	1	L → R in DSS. Ref.42		VAR_029967
	Natural variant	84	1	Missing in DSS.		VAR_006370
	Natural variant	93	1	G → R in CMT1A. Ref.17		VAR_009662
	Natural variant	100	1	G → E in DSS. Ref.25		VAR_006371
	Natural variant	100	1	G → R in DSS. Ref.21		VAR_006372
	Natural variant	105	1	L → R in CMT1A and DSS. Ref.14 Ref.42		VAR_006373
	Natural variant	107	1	G → V in CMT1A. Ref.24		VAR_006374
	Natural variant	109	1	C → R in DSS. Ref.38		VAR_029968
	Natural variant	115 – 118	4	Missing in CMT1E.		VAR_029969
	Natural variant	118	1	T → M in CMT1A. Ref.11 Ref.23 Ref.28 Ref.37 Ref.48		VAR_006375
	Natural variant	137	1	I → V.		VAR_006376
	Natural variant	147	1	L → R in CMT1A. Ref.18 Ref.37		VAR_006377
	Natural variant	149	1	S → R in DSS. Ref.34		VAR_029970
	Natural variant	150	1	G → C in DSS. Ref.26		VAR_006378
	Natural variant	150	1	G → D in DSS. Ref.22		VAR_006379
	Natural variant	157	1	R → G. Ref.35 Corresponds to variant rs28936682 [ dbSNP | Ensembl ].		VAR_009663
	Natural variant	157	1	R → W in DSS. Ref.32 Corresponds to variant rs28936682 [ dbSNP | Ensembl ].		VAR_009664

Sequences

	Sequence		Length	Mass (Da)
	Q01453 [UniParc]. Last modified April 1, 1993. Version 1. Checksum: 7ECF7F91BED0CF9D	FASTA	160	17,891
	10 20 30 40 50 60 MLLLLLSIIV LHVAVLVLLF VSTIVSQWIV GNGHATDLWQ NCSTSSSGNV HHCFSSSPNE 70 80 90 100 110 120 WLQSVQATMI LSIIFSILSL FLFFCQLFTL TKGGRFYITG IFQILAGLCV MSAAAIYTVR 130 140 150 160 HPEWHLNSDY SYGFAYILAW VAFPLALLSG VIYVILRKRE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A." Patel P.I., Roa B.B., Welcher A.A., Schoener-Scott R., Trask B., Pentao L., Snipes G.J., Garcia C.A., Francke U., Shooter E.M., Lupski J.R., Suter U. Nat. Genet. 1:159-165(1992) [PubMed: 1303228] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"Isolation and sequence determination of cDNA encoding PMP-22 (PAS-II/SR13/Gas-3) of human peripheral myelin." Hayasaka K., Himoro M., Nanao K., Sato W., Miura M., Uyemura K., Takahashi E., Takada G. Biochem. Biophys. Res. Commun. 186:827-831(1992) [PubMed: 1497668] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Spinal cord.
[3]	"Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A." Valentijn L.J., Baas F., Wolterman R.A., Hoogendijk J.E., van den Bosch N.H.A., Zorn I., Gabreeels-Festen A.A.W.M., de Visser M., Bolhuis P.A. Nat. Genet. 2:288-291(1992) [PubMed: 1303281] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT CMT1A PRO-16.
[4]	"Sequence of human GAS3/PMP22 full-length cDNA." Edomi P., Martinotti A., Colombo M.P., Schneider C. Gene 126:289-290(1993) [PubMed: 8482547] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Kidney.
[6]	"Isolation and mapping to 17p12-13 of the human homologous of the murine growth arrest specific Gas-3 gene." Martinotti A., Cariani C.T., Melani C., Sozzi G., Spurr N.K., Pierotti M.A., Colombo M.P. Hum. Mol. Genet. 1:331-334(1992) [PubMed: 1303210] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 61-160. Tissue: Fetal fibroblast.
[7]	"Molecular genetics of Charcot-Marie-Tooth neuropathy." Roa B.B., Lupski J.R. Adv. Hum. Genet. 22:117-152(1994) [PubMed: 7762451] [Abstract] Cited for: REVIEW ON CMT1A VARIANTS.
[8]	"Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease." Patel P.I., Lupski J.R. Trends Genet. 10:128-133(1994) [PubMed: 7518101] [Abstract] Cited for: REVIEW ON CMT1A VARIANTS.
[9]	"Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies." Nelis E., Haites N., van Broeckhoven C. Hum. Mutat. 13:11-28(1999) [PubMed: 9888385] [Abstract] Cited for: REVIEW ON CMT1A AND DSS VARIANTS.
[10]	"Structural basis for the Trembler-J phenotype of Charcot-Marie-Tooth disease." Sakakura M., Hadziselimovic A., Wang Z., Schey K.L., Sanders C.R. Structure 19:1160-1169(2011) [PubMed: 21827951] [Abstract] Cited for: STRUCTURE BY NMR OF WILD TYPE AND MUTANT PRO-16, SUBCELLULAR LOCATION, TOPOLOGY.
[11]	"Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A." Roa B.B., Garcia C.A., Pentao L., Killian J.M., Trask B.J., Suter U., Snipes G.J., Ortiz-Lopez R., Shooter E.M., Patel P.I., Lupski J.R. Nat. Genet. 5:189-194(1993) [PubMed: 8252046] [Abstract] Cited for: VARIANTS DSS LYS-69 AND LEU-72, VARIANTS CMT1A CYS-79 AND MET-118.
[12]	"Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene." Roa B.B., Dyck P.J., Marks H.G., Chance P.F., Lupski J.R. Nat. Genet. 5:269-273(1993) [PubMed: 8275092] [Abstract] Cited for: VARIANTS DSS LYS-69 AND LEU-72.
[13]	"Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene." Roa B.B., Garcia C.A., Suter U., Kulpa D.A., Wise C.A., Mueller J., Welcher A.A., Snipes G.J., Shooter E.M., Patel P.I., Lupski J.R. N. Engl. J. Med. 329:96-101(1993) [PubMed: 8510709] [Abstract] Cited for: VARIANT CMT1A CYS-79.
[14]	"Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations." Gabreeels-Festen A.A.W.M., Bolhuis P.A., Hoogendijk J.E., Valentijn L.J., Eshuis E.J., Gabreeels F.J.M. Acta Neuropathol. 90:645-649(1995) [PubMed: 8615087] [Abstract] Cited for: VARIANT CMT1A ARG-105.
[15]	"Dejerine-Sottas neuropathy is associated with a de novo PMP22 mutation." Valentijn L.J., Ouvrier R.A., van den Bosch N.H.A., Bolhuis P.A., Baas F., Nicholson G.A. Hum. Mutat. 5:76-80(1995) [PubMed: 7728152] [Abstract] Cited for: VARIANT DSS GLN-12.
[16]	"Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene." Ionasescu V.V., Ionasescu R., Searby C.C., Neahring R. Neurology 45:1766-1767(1995) [PubMed: 7675244] [Abstract] Cited for: VARIANT DSS LEU-72.
[17]	"A case of hereditary motor and sensory neuropathy type I with a new type of peripheral myelin protein (PMP)-22 mutation." Ohnishi A., Yoshimura T., Kanehisa Y., Fukushima Y. Rinsho Shinkeigaku 35:788-792(1995) [PubMed: 8777804] [Abstract] Cited for: VARIANT CMT1A ARG-93.
[18]	"A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe de novo Charcot-Marie-Tooth disease." Navon R., Seifried B., Gal-On N.S., Sadeh M. Hum. Genet. 97:685-687(1996) [PubMed: 8655153] [Abstract] Cited for: VARIANT CMT1A ARG-147.
[19]	"Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene." Ionasescu V.V., Searby C., Greenberg S.A. J. Med. Genet. 33:1048-1049(1996) [PubMed: 9004143] [Abstract] Cited for: VARIANT DSS LEU-72.
[20]	"Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome." Tyson J., Ellis D., Fairbrother U., King R.H., Muntoni F., Jacobs J., Malcolm S., Harding A.E., Thomas P.K. Brain 120:47-63(1997) [PubMed: 9055797] [Abstract] Cited for: VARIANTS DSS TRP-72; ILE-76 AND PRO-80.
[21]	"Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies." Bort S., Nelis E., Timmerman V., Sevilla T., Cruz-Martinez A., Martinez F., Millan J.M., Arpa J., Vilchez J.J., Prieto F., van Broeckhoven C., Palau F. Hum. Genet. 99:746-754(1997) [PubMed: 9187667] [Abstract] Cited for: VARIANT DSS ARG-100.
[22]	"Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene." Ionasescu V.V., Searby C.C., Ionasescu R., Chatkupt S., Patel N., Koenigsberger R. Muscle Nerve 20:97-99(1997) [PubMed: 8995589] [Abstract] Cited for: VARIANT DSS ASP-150.
[23]	"PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism?" Nelis E., Holmberg B., Adolfsson R., Holmgren G., van Broeckhoven C. Nat. Genet. 15:13-14(1997) [PubMed: 8988161] [Abstract] Cited for: VARIANT MET-118.
[24]	"A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A." Marrosu M.G., Vaccargiu S., Marrosu G., Vannelli A., Cianchetti C., Muntoni F. Neurology 48:489-493(1997) [PubMed: 9040744] [Abstract] Cited for: VARIANT CMT1A VAL-107.
[25]	"Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible 'hot spot' on Ser72." Marques W. Jr., Thomas P.K., Sweeney M.G., Carr L., Wood N.W. Ann. Neurol. 43:680-683(1998) [PubMed: 9585367] [Abstract] Cited for: VARIANTS DSS LEU-72 AND GLU-100.
[26]	"Novel mutations of the peripheral myelin protein 22 gene in two pedigrees with Dejerine-Sottas disease." Ikegami T., Ikeda H., Aoyama M., Matsuki T., Imota T., Fukuuchi Y., Amano T., Toyoshima I., Ishihara Y., Endoh H., Hayasaka K. Hum. Genet. 102:294-298(1998) [PubMed: 9544841] [Abstract] Cited for: VARIANT DSS CYS-150.
[27]	"Dejerine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene." Bort S., Sevilla T., Garcia-Planells J., Blesa D., Paricio N., Vilchez J.J., Prieto F., Palau F. Hum. Mutat. Suppl. 1:S95-S98(1998) [PubMed: 9452053] [Abstract] Cited for: VARIANT DSS PRO-79.
[28]	"Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1)." Sorour E., Upadhyaya M. Hum. Mutat. Suppl. 1:S242-S247(1998) [PubMed: 9452099] [Abstract] Cited for: VARIANT MET-118.
[29]	"Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies." Silander K., Meretoja P., Juvonen V., Ignatius J., Pihko H., Saarinen A., Wallden T., Herrgaard E., Aula P., Savontaus M.-L. Hum. Mutat. 12:59-68(1998) [PubMed: 9633821] [Abstract] Cited for: VARIANT DSS PHE-84 DEL.
[30]	"A novel PMP22 point mutation causing HNPP phenotype: studies on nerve xenografts." Sahenk Z., Chen L., Freimer M. Neurology 51:702-707(1998) [PubMed: 9748013] [Abstract] Cited for: VARIANT HNPP MET-30.
[31]	"A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness." Kovach M.J., Lin J.-P., Boyadjiev S., Campbell K., Mazzeo L., Herman K., Rimer L.A., Frank W., Llewellyn B., Wang Jabs E., Gelber D., Kimonis V.E. Am. J. Hum. Genet. 64:1580-1593(1999) [PubMed: 10330345] [Abstract] Cited for: VARIANT CMT1E PRO-67.
[32]	"Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease." Parman Y., Plante-Bordeneuve V., Guiochon-Mantel A., Eraksoy M., Said G. Ann. Neurol. 45:518-522(1999) [PubMed: 10211478] [Abstract] Cited for: VARIANT DSS TRP-157. Tissue: Peripheral blood.
[33]	"Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22." Fabrizi G.M., Cavallaro T., Taioli F., Orrico D., Morbin M., Simonati A., Rizzuto N. Neurology 53:846-851(1999) [PubMed: 10489052] [Abstract] Cited for: VARIANT CMT1A VAL-37.
[34]	"Dejerine-Sottas disease with a novel de novo dominant mutation, Ser 149 Arg, of the peripheral myelin protein 22." Ohnishi A., Yamamoto T., Izawa K., Yamamori S., Takahashi K., Mega H., Jinnai K. Acta Neuropathol. 99:327-330(2000) [PubMed: 10663978] [Abstract] Cited for: VARIANT DSS ARG-149.
[35]	"Hemizygous mutation of the peripheral myelin protein 22 gene associated with Charcot-Marie-Tooth disease type 1." Numakura C., Lin C., Oka N., Akiguchi I., Hayasaka K. Ann. Neurol. 47:101-103(2000) [PubMed: 10632107] [Abstract] Cited for: VARIANT GLY-157. Tissue: Peripheral blood leukocyte.
[36]	"Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth type 1 and HNPP patients." Bissar-Tadmouri N., Parman Y., Boutrand L., Deymeer F., Serdaroglu P., Vandenberghe A., Battaloglu E. Clin. Genet. 58:396-402(2000) [PubMed: 11140841] [Abstract] Cited for: VARIANT CMT1A LEU-72.
[37]	"Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients." Mersiyanova I.V., Ismailov S.M., Polyakov A.V., Dadali E.L., Fedotov V.P., Nelis E., Loefgren A., Timmerman V., Van Broeckhoven C., Evgrafov O.V. Hum. Mutat. 15:340-347(2000) [PubMed: 10737979] [Abstract] Cited for: VARIANTS CMT1A 25-VAL-SER-26 DEL AND ARG-147, VARIANT MET-118.
[38]	"Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: mutation analysis in a large cohort of Italian families." Mostacciuolo M.L., Righetti E., Zortea M., Bosello V., Schiavon F., Vallo L., Merlini L., Siciliano G., Fabrizi G.M., Rizzuto N., Milani M., Baratta S., Taroni F. Hum. Mutat. 18:32-41(2001) [PubMed: 11438991] [Abstract] Cited for: VARIANTS DSS LEU-72 AND ARG-109.
[39]	"Family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion." Korn-Lubetzki I., Argov Z., Raas-Rothschild A., Wirguin I., Steiner I. Am. J. Med. Genet. 113:275-278(2002) [PubMed: 12439896] [Abstract] Cited for: INVOLVEMENT IN IDP.
[40]	"Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation." Boerkoel C.F., Takashima H., Garcia C.A., Olney R.K., Johnson J., Berry K., Russo P., Kennedy S., Teebi A.S., Scavina M., Williams L.L., Mancias P., Butler I.J., Krajewski K., Shy M., Lupski J.R. Ann. Neurol. 51:190-201(2002) [PubMed: 11835375] [Abstract] Cited for: VARIANT CMT1E ARG-28, VARIANT CMT1A/DSS PRO-71.
[41]	"Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations." Numakura C., Lin C., Ikegami T., Guldberg P., Hayasaka K. Hum. Mutat. 20:392-398(2002) [PubMed: 12402337] [Abstract] Cited for: VARIANT CMT1A LEU-72.
[42]	"Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients." Gabreeels-Festen A.A.W.M. J. Anat. 200:341-356(2002) [PubMed: 12090401] [Abstract] Cited for: VARIANTS DSS PRO-16; ARG-80 AND ARG-105.
[43]	"Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1." Huehne K., Benes V., Thiel C., Kraus C., Kress W., Hoeltzenbein M., Ploner C.J., Kotzian J., Reis A., Rott H.D., Rautenstrauss B.W. Hum. Mutat. 21:100-100(2003) [PubMed: 12497641] [Abstract] Cited for: VARIANT CMT1A PHE-65.
[44]	"Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene." Sambuughin N., de Bantel A., McWilliams S., Sivakumar K. Neurology 60:506-508(2003) [PubMed: 12578939] [Abstract] Cited for: VARIANT CMT1E 115-ALA--THR-118 DEL.
[45]	"HNPP due to a novel missense mutation of the PMP22 gene." Nodera H., Nishimura M., Logigian E.L., Herrmann D.N., Kaji R. Neurology 60:1863-1864(2003) [PubMed: 12796555] [Abstract] Cited for: VARIANT HNPP THR-67.
[46]	"A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes." Kleopa K.A., Georgiou D.-M., Nicolaou P., Koutsou P., Papathanasiou E., Kyriakides T., Christodoulou K. Neurogenetics 5:171-175(2004) [PubMed: 15205993] [Abstract] Cited for: VARIANT HNPP/CMT1A PHE-22.
[47]	"A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness." Joo I.S., Ki C.S., Joo S.Y., Huh K., Kim J.W. Neuromuscul. Disord. 14:325-328(2004) [PubMed: 15099592] [Abstract] Cited for: VARIANT CMT1E ARG-23.
[48]	"T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy." Shy M.E., Scavina M.T., Clark A., Krajewski K.M., Li J., Kamholz J., Kolodny E., Szigeti K., Fischer R.A., Saifi G.M., Scherer S.S., Lupski J.R. Ann. Neurol. 59:358-364(2006) [PubMed: 16437560] [Abstract] Cited for: VARIANT CNT1A MET-118.
+	Additional computationally mapped references.

Web resources

Inherited peripheral neuropathies mutation db

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	M94048 mRNA. Translation: AAA36457.1. D11428 mRNA. Translation: BAA01995.1. S61788 mRNA. Translation: AAB26811.1. L03203 mRNA. Translation: AAA58495.1. BC019040 mRNA. Translation: AAH19040.2. X65968 mRNA. Translation: CAA46781.1.
IPI	IPI00007769.
PIR	JN0503.
RefSeq	NP_000295.1. NM_000304.2. NP_696996.1. NM_153321.1. NP_696997.1. NM_153322.1.
UniGene	Hs.372031.
3D structure databases
ProteinModelPortal	Q01453.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q01453. 3 interactions.
STRING	Q01453.
Polymorphism databases
DMDM	266803.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000312280; ENSP00000308937; ENSG00000109099. ENST00000395938; ENSP00000379269; ENSG00000109099. ENST00000426385; ENSP00000409824; ENSG00000109099.
GeneID	5376.
KEGG	hsa:5376.
UCSC	uc002goj.1. human.
Organism-specific databases
CTD	5376.
GeneCards	GC17M015073.
H-InvDB	HIX0013554. HIX0039508.
HGNC	HGNC:9118. PMP22.
MIM	118220. phenotype. 118300. phenotype. 139393. phenotype. 145900. phenotype. 162500. phenotype. 601097. gene.
neXtProt	NX_Q01453.
Orphanet	101081. Charcot-Marie-Tooth disease type 1A. 90658. Charcot-Marie-Tooth disease type 1E. 64748. Dejerine-Sottas syndrome. 640. Hereditary neuropathy with liability to pressure palsies.
PharmGKB	PA33444.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG20364.
HOGENOM	HBG443769.
HOVERGEN	HBG001690.
InParanoid	Q01453.
OMA	YLTGIFQ.
OrthoDB	EOG4XPQH8.
PhylomeDB	Q01453.
Enzyme and pathway databases
Pathway_Interaction_DB	a6b1_a6b4_integrin_pathway. a6b1 and a6b4 Integrin signaling.
Gene expression databases
ArrayExpress	Q01453.
Bgee	Q01453.
CleanEx	HS_PMP22.
Genevestigator	Q01453.
GermOnline	ENSG00000109099. Homo sapiens.
Family and domain databases
InterPro	IPR003936. PMP22. IPR004031. PMP22/EMP/MP20/Claudin. IPR004032. PMP22_EMP_MP20. [Graphical view]
Pfam	PF00822. PMP22_Claudin. 1 hit. [Graphical view]
PRINTS	PR01453. EPMEMFAMILY. PR01458. PMYELIN22.
PROSITE	PS01221. PMP22_1. 1 hit. PS01222. PMP22_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	20856.
SOURCE	Search...

Entry information

Entry name

PMP22_HUMAN

Accession

Primary (citable) accession number: Q01453
Secondary accession number(s): Q8WV01

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 1, 1993
Last sequence update:	April 1, 1993
Last modified:	January 25, 2012
This is version 126 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.