Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q01453 (PMP22_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 150. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length160 AA.
Sequence statusComplete.
Protein existenceEvidence 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

Charcot-Marie-Tooth disease 1A (CMT1A) [MIM:118220]: A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. 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

Dejerine-Sottas syndrome (DSS) [MIM:145900]: A severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. 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

Hereditary neuropathy with liability to pressure palsies (HNPP) [MIM:162500]: A neurologic disorder characterized by transient episodes of decreased perception or peripheral nerve palsies after slight traction, compression or minor traumas.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.30 Ref.45 Ref.46

Charcot-Marie-Tooth disease 1E (CMT1E) [MIM:118300]: An autosomal dominant form of Charcot-Marie-Tooth disease characterized by the association of sensorineural hearing loss with peripheral demyelinating neuropathy.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.31 Ref.40 Ref.44 Ref.47

Inflammatory demyelinating polyneuropathy (IDP) [MIM:139393]: Putative autoimmune disorder presenting in an acute (AIDP) or chronic form (CIDP). The acute form is also known as Guillain-Barre syndrome.
Note: The disease may be caused by mutations affecting the gene represented in this entry. Ref.39

Sequence similarities

Belongs to the PMP-22/EMP/MP20 family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 160160Peripheral myelin protein 22
PRO_0000164650

Regions

Topological domain11Cytoplasmic Potential
Transmembrane2 – 3130Helical; By similarity
Topological domain32 – 6433Extracellular Potential
Transmembrane65 – 9127Helical; By similarity
Topological domain92 – 954Cytoplasmic Potential
Transmembrane96 – 11924Helical; By similarity
Topological domain120 – 13314Extracellular Potential
Transmembrane134 – 15623Helical; By similarity
Topological domain157 – 1604Cytoplasmic Potential

Amino acid modifications

Glycosylation411N-linked (GlcNAc...) Potential

Natural variations

Natural variant121H → Q in DSS. Ref.15
VAR_006359
Natural variant161L → P in CMT1A and DSS. Ref.3 Ref.10 Ref.42
VAR_006360
Natural variant191L → P in DSS.
VAR_006361
Natural variant221S → F in HNPP and CMT1A. Ref.46
VAR_029960
Natural variant231T → R in CMT1E. Ref.47
VAR_029961
Natural variant25 – 262Missing in CMT1A.
VAR_029962
Natural variant281W → R in CMT1E. Ref.40
VAR_029963
Natural variant301V → M in HNPP. Ref.30
VAR_009659
Natural variant371D → V in CMT1A; with focally folded myelin sheaths. Ref.33
VAR_009660
Natural variant651V → F in CMT1A. Ref.43
VAR_029964
Natural variant671A → P in CMT1E. Ref.31
VAR_009661
Natural variant671A → T in HNPP. Ref.45
VAR_029965
Natural variant691M → K in DSS. Ref.11 Ref.12
VAR_006362
Natural variant711L → P in DSS. Ref.40
VAR_029966
Natural variant721S → L in DSS and CMT1A. Ref.11 Ref.12 Ref.16 Ref.19 Ref.25 Ref.36 Ref.38 Ref.41
VAR_006363
Natural variant721S → P in DSS.
VAR_006364
Natural variant721S → W in DSS. Ref.20
VAR_006365
Natural variant761S → I in DSS. Ref.20
VAR_006366
Natural variant791S → C in CMT1A. Ref.11 Ref.13
VAR_006367
Natural variant791S → P in DSS. Ref.27
VAR_006368
Natural variant801L → P in DSS. Ref.20
VAR_006369
Natural variant801L → R in DSS. Ref.42
VAR_029967
Natural variant841Missing in DSS. Ref.29
VAR_006370
Natural variant931G → R in CMT1A. Ref.17
VAR_009662
Natural variant1001G → E in DSS. Ref.25
VAR_006371
Natural variant1001G → R in DSS. Ref.21
VAR_006372
Natural variant1051L → R in CMT1A and DSS. Ref.14 Ref.42
VAR_006373
Natural variant1071G → V in CMT1A. Ref.24
VAR_006374
Natural variant1091C → R in DSS. Ref.38
VAR_029968
Natural variant115 – 1184Missing in CMT1E.
VAR_029969
Natural variant1181T → M in CMT1A. Ref.11 Ref.23 Ref.28 Ref.37 Ref.48
Corresponds to variant rs104894619 [ dbSNP | Ensembl ].
VAR_006375
Natural variant1371I → V.
VAR_006376
Natural variant1471L → R in CMT1A. Ref.18 Ref.37
VAR_006377
Natural variant1491S → R in DSS. Ref.34
VAR_029970
Natural variant1501G → C in DSS. Ref.26
VAR_006378
Natural variant1501G → D in DSS. Ref.22
VAR_006379
Natural variant1571R → G. Ref.35
Corresponds to variant rs28936682 [ dbSNP | Ensembl ].
VAR_009663
Natural variant1571R → W in DSS. Ref.32
Corresponds to variant rs28936682 [ dbSNP | Ensembl ].
VAR_009664

Sequences

Sequence LengthMass (Da)Tools
Q01453 [UniParc].

Last modified April 1, 1993. Version 1.
Checksum: 7ECF7F91BED0CF9D

FASTA16017,891
        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 

« Hide

References

« Hide '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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract]
Cited for: VARIANT CNT1A MET-118.
+Additional computationally mapped references.

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.
PIRJN0503.
RefSeqNP_000295.1. NM_000304.3.
NP_001268384.1. NM_001281455.1.
NP_001268385.1. NM_001281456.1.
NP_696996.1. NM_153321.2.
NP_696997.1. NM_153322.2.
UniGeneHs.372031.
Hs.658306.

3D structure databases

ProteinModelPortalQ01453.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111389. 4 interactions.
IntActQ01453. 3 interactions.
STRING9606.ENSP00000308937.

Chemistry

ChEMBLCHEMBL1293298.

Polymorphism databases

DMDM266803.

Protocols and materials databases

DNASU5376.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000312280; ENSP00000308937; ENSG00000109099.
ENST00000395938; ENSP00000379269; ENSG00000109099.
GeneID5376.
KEGGhsa:5376.
UCSCuc002goj.3. human.

Organism-specific databases

CTD5376.
GeneCardsGC17M015133.
H-InvDBHIX0039508.
HGNCHGNC:9118. PMP22.
MIM118220. phenotype.
118300. phenotype.
139393. phenotype.
145900. phenotype.
162500. phenotype.
601097. gene.
neXtProtNX_Q01453.
Orphanet98916. Acute inflammatory demyelinating polyradiculoneuropathy.
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.
3115. Roussy-Levy syndrome.
PharmGKBPA33444.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG43599.
HOGENOMHOG000059542.
HOVERGENHBG001690.
InParanoidQ01453.
OMAYLTGIFQ.
OrthoDBEOG7034KD.
PhylomeDBQ01453.
TreeFamTF330414.

Gene expression databases

ArrayExpressQ01453.
BgeeQ01453.
CleanExHS_PMP22.
GenevestigatorQ01453.

Family and domain databases

InterProIPR003936. PMP22.
IPR004031. PMP22/EMP/MP20/Claudin.
IPR004032. PMP22_EMP_MP20.
[Graphical view]
PfamPF00822. PMP22_Claudin. 1 hit.
[Graphical view]
PRINTSPR01453. EPMEMFAMILY.
PR01458. PMYELIN22.
PROSITEPS01221. PMP22_1. 1 hit.
PS01222. PMP22_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSPMP22. human.
GeneWikiPeripheral_myelin_protein_22.
GenomeRNAi5376.
NextBio20856.
PROQ01453.
SOURCESearch...

Entry information

Entry namePMP22_HUMAN
AccessionPrimary (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: April 16, 2014
This is version 150 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM