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Q01453

- PMP22_HUMAN

UniProt

Q01453 - PMP22_HUMAN

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Protein

Peripheral myelin protein 22

Gene

PMP22

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Might be involved in growth regulation, and in myelinization in the peripheral nervous system.

GO - Biological processi

  1. cell death Source: UniProtKB-KW
  2. peripheral nervous system development Source: ProtInc
  3. synaptic transmission Source: ProtInc
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Peripheral myelin protein 22
Short name:
PMP-22
Alternative name(s):
Growth arrest-specific protein 3
Short name:
GAS-3
Gene namesi
Name:PMP22
Synonyms:GAS3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:9118. PMP22.

Subcellular locationi

Cell membrane 1 Publication; Multi-pass membrane protein 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 11CytoplasmicSequence Analysis
Transmembranei2 – 3130HelicalBy similarityAdd
BLAST
Topological domaini32 – 6433ExtracellularSequence AnalysisAdd
BLAST
Transmembranei65 – 9127HelicalBy similarityAdd
BLAST
Topological domaini92 – 954CytoplasmicSequence Analysis
Transmembranei96 – 11924HelicalBy similarityAdd
BLAST
Topological domaini120 – 13314ExtracellularSequence AnalysisAdd
BLAST
Transmembranei134 – 15623HelicalBy similarityAdd
BLAST
Topological domaini157 – 1604CytoplasmicSequence Analysis

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. plasma membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

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.14 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti16 – 161L → P in CMT1A and DSS. 2 Publications
VAR_006360
Natural varianti22 – 221S → F in HNPP and CMT1A. 1 Publication
VAR_029960
Natural varianti25 – 262Missing in CMT1A. 1 Publication
VAR_029962
Natural varianti37 – 371D → V in CMT1A; with focally folded myelin sheaths. 1 Publication
VAR_009660
Natural varianti65 – 651V → F in CMT1A. 1 Publication
VAR_029964
Natural varianti72 – 721S → L in DSS and CMT1A. 8 Publications
VAR_006363
Natural varianti79 – 791S → C in CMT1A. 2 Publications
VAR_006367
Natural varianti93 – 931G → R in CMT1A. 1 Publication
VAR_009662
Natural varianti105 – 1051L → R in CMT1A and DSS. 2 Publications
VAR_006373
Natural varianti107 – 1071G → V in CMT1A. 1 Publication
VAR_006374
Natural varianti118 – 1181T → M in CMT1A. 5 Publications
Corresponds to variant rs104894619 [ dbSNP | Ensembl ].
VAR_006375
Natural varianti147 – 1471L → R in CMT1A. 2 Publications
VAR_006377
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.16 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti12 – 121H → Q in DSS. 1 Publication
VAR_006359
Natural varianti16 – 161L → P in CMT1A and DSS. 2 Publications
VAR_006360
Natural varianti19 – 191L → P in DSS.
VAR_006361
Natural varianti69 – 691M → K in DSS. 2 Publications
VAR_006362
Natural varianti71 – 711L → P in DSS. 1 Publication
VAR_029966
Natural varianti72 – 721S → L in DSS and CMT1A. 8 Publications
VAR_006363
Natural varianti72 – 721S → P in DSS.
VAR_006364
Natural varianti72 – 721S → W in DSS. 1 Publication
VAR_006365
Natural varianti76 – 761S → I in DSS. 1 Publication
VAR_006366
Natural varianti79 – 791S → P in DSS. 1 Publication
VAR_006368
Natural varianti80 – 801L → P in DSS. 1 Publication
VAR_006369
Natural varianti80 – 801L → R in DSS. 1 Publication
VAR_029967
Natural varianti84 – 841Missing in DSS. 1 Publication
VAR_006370
Natural varianti100 – 1001G → E in DSS. 1 Publication
VAR_006371
Natural varianti100 – 1001G → R in DSS. 1 Publication
VAR_006372
Natural varianti105 – 1051L → R in CMT1A and DSS. 2 Publications
VAR_006373
Natural varianti109 – 1091C → R in DSS. 1 Publication
VAR_029968
Natural varianti149 – 1491S → R in DSS. 1 Publication
VAR_029970
Natural varianti150 – 1501G → C in DSS. 1 Publication
VAR_006378
Natural varianti150 – 1501G → D in DSS. 1 Publication
VAR_006379
Natural varianti157 – 1571R → W in DSS. 1 Publication
Corresponds to variant rs28936682 [ dbSNP | Ensembl ].
VAR_009664
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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti22 – 221S → F in HNPP and CMT1A. 1 Publication
VAR_029960
Natural varianti30 – 301V → M in HNPP. 1 Publication
VAR_009659
Natural varianti67 – 671A → T in HNPP. 1 Publication
VAR_029965
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.4 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti23 – 231T → R in CMT1E. 1 Publication
VAR_029961
Natural varianti28 – 281W → R in CMT1E. 1 Publication
VAR_029963
Natural varianti67 – 671A → P in CMT1E. 1 Publication
VAR_009661
Natural varianti115 – 1184Missing in CMT1E. 1 Publication
VAR_029969
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.1 Publication
Note: The disease may be caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Charcot-Marie-Tooth disease, Deafness, Dejerine-Sottas syndrome, Disease mutation, Neurodegeneration, Neuropathy

Organism-specific databases

MIMi118220. phenotype.
118300. phenotype.
139393. phenotype.
145900. phenotype.
162500. phenotype.
Orphaneti98916. 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.
PharmGKBiPA33444.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 160160Peripheral myelin protein 22PRO_0000164650Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi41 – 411N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Expressioni

Gene expression databases

BgeeiQ01453.
CleanExiHS_PMP22.
ExpressionAtlasiQ01453. baseline and differential.
GenevestigatoriQ01453.

Interactioni

Protein-protein interaction databases

BioGridi111389. 4 interactions.
IntActiQ01453. 3 interactions.
STRINGi9606.ENSP00000308937.

Structurei

3D structure databases

ProteinModelPortaliQ01453.
SMRiQ01453. Positions 4-159.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG43599.
HOGENOMiHOG000059542.
HOVERGENiHBG001690.
InParanoidiQ01453.
OMAiEYSYGFA.
OrthoDBiEOG7034KD.
PhylomeDBiQ01453.
TreeFamiTF330414.

Family and domain databases

InterProiIPR003936. PMP22.
IPR004031. PMP22/EMP/MP20/Claudin.
IPR004032. PMP22_EMP_MP20.
[Graphical view]
PfamiPF00822. PMP22_Claudin. 1 hit.
[Graphical view]
PRINTSiPR01453. EPMEMFAMILY.
PR01458. PMYELIN22.
PROSITEiPS01221. PMP22_1. 1 hit.
PS01222. PMP22_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q01453-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MLLLLLSIIV LHVAVLVLLF VSTIVSQWIV GNGHATDLWQ NCSTSSSGNV
60 70 80 90 100
HHCFSSSPNE WLQSVQATMI LSIIFSILSL FLFFCQLFTL TKGGRFYITG
110 120 130 140 150
IFQILAGLCV MSAAAIYTVR HPEWHLNSDY SYGFAYILAW VAFPLALLSG
160
VIYVILRKRE
Length:160
Mass (Da):17,891
Last modified:April 1, 1993 - v1
Checksum:i7ECF7F91BED0CF9D
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti12 – 121H → Q in DSS. 1 Publication
VAR_006359
Natural varianti16 – 161L → P in CMT1A and DSS. 2 Publications
VAR_006360
Natural varianti19 – 191L → P in DSS.
VAR_006361
Natural varianti22 – 221S → F in HNPP and CMT1A. 1 Publication
VAR_029960
Natural varianti23 – 231T → R in CMT1E. 1 Publication
VAR_029961
Natural varianti25 – 262Missing in CMT1A. 1 Publication
VAR_029962
Natural varianti28 – 281W → R in CMT1E. 1 Publication
VAR_029963
Natural varianti30 – 301V → M in HNPP. 1 Publication
VAR_009659
Natural varianti37 – 371D → V in CMT1A; with focally folded myelin sheaths. 1 Publication
VAR_009660
Natural varianti65 – 651V → F in CMT1A. 1 Publication
VAR_029964
Natural varianti67 – 671A → P in CMT1E. 1 Publication
VAR_009661
Natural varianti67 – 671A → T in HNPP. 1 Publication
VAR_029965
Natural varianti69 – 691M → K in DSS. 2 Publications
VAR_006362
Natural varianti71 – 711L → P in DSS. 1 Publication
VAR_029966
Natural varianti72 – 721S → L in DSS and CMT1A. 8 Publications
VAR_006363
Natural varianti72 – 721S → P in DSS.
VAR_006364
Natural varianti72 – 721S → W in DSS. 1 Publication
VAR_006365
Natural varianti76 – 761S → I in DSS. 1 Publication
VAR_006366
Natural varianti79 – 791S → C in CMT1A. 2 Publications
VAR_006367
Natural varianti79 – 791S → P in DSS. 1 Publication
VAR_006368
Natural varianti80 – 801L → P in DSS. 1 Publication
VAR_006369
Natural varianti80 – 801L → R in DSS. 1 Publication
VAR_029967
Natural varianti84 – 841Missing in DSS. 1 Publication
VAR_006370
Natural varianti93 – 931G → R in CMT1A. 1 Publication
VAR_009662
Natural varianti100 – 1001G → E in DSS. 1 Publication
VAR_006371
Natural varianti100 – 1001G → R in DSS. 1 Publication
VAR_006372
Natural varianti105 – 1051L → R in CMT1A and DSS. 2 Publications
VAR_006373
Natural varianti107 – 1071G → V in CMT1A. 1 Publication
VAR_006374
Natural varianti109 – 1091C → R in DSS. 1 Publication
VAR_029968
Natural varianti115 – 1184Missing in CMT1E. 1 Publication
VAR_029969
Natural varianti118 – 1181T → M in CMT1A. 5 Publications
Corresponds to variant rs104894619 [ dbSNP | Ensembl ].
VAR_006375
Natural varianti137 – 1371I → V.
VAR_006376
Natural varianti147 – 1471L → R in CMT1A. 2 Publications
VAR_006377
Natural varianti149 – 1491S → R in DSS. 1 Publication
VAR_029970
Natural varianti150 – 1501G → C in DSS. 1 Publication
VAR_006378
Natural varianti150 – 1501G → D in DSS. 1 Publication
VAR_006379
Natural varianti157 – 1571R → G.1 Publication
Corresponds to variant rs28936682 [ dbSNP | Ensembl ].
VAR_009663
Natural varianti157 – 1571R → W in DSS. 1 Publication
Corresponds to variant rs28936682 [ dbSNP | Ensembl ].
VAR_009664

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS11168.1.
PIRiJN0503.
RefSeqiNP_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.
UniGeneiHs.372031.
Hs.658306.

Genome annotation databases

EnsembliENST00000312280; ENSP00000308937; ENSG00000109099.
ENST00000395938; ENSP00000379269; ENSG00000109099.
ENST00000612492; ENSP00000484631; ENSG00000109099.
GeneIDi5376.
KEGGihsa:5376.
UCSCiuc002goj.3. human.

Polymorphism databases

DMDMi266803.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Inherited peripheral neuropathies mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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 .
CCDSi CCDS11168.1.
PIRi JN0503.
RefSeqi NP_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.
UniGenei Hs.372031.
Hs.658306.

3D structure databases

ProteinModelPortali Q01453.
SMRi Q01453. Positions 4-159.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 111389. 4 interactions.
IntActi Q01453. 3 interactions.
STRINGi 9606.ENSP00000308937.

Chemistry

ChEMBLi CHEMBL1293298.

Polymorphism databases

DMDMi 266803.

Protocols and materials databases

DNASUi 5376.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000312280 ; ENSP00000308937 ; ENSG00000109099 .
ENST00000395938 ; ENSP00000379269 ; ENSG00000109099 .
ENST00000612492 ; ENSP00000484631 ; ENSG00000109099 .
GeneIDi 5376.
KEGGi hsa:5376.
UCSCi uc002goj.3. human.

Organism-specific databases

CTDi 5376.
GeneCardsi GC17M015133.
GeneReviewsi PMP22.
H-InvDB HIX0039508.
HGNCi HGNC:9118. PMP22.
MIMi 118220. phenotype.
118300. phenotype.
139393. phenotype.
145900. phenotype.
162500. phenotype.
601097. gene.
neXtProti NX_Q01453.
Orphaneti 98916. 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.
PharmGKBi PA33444.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG43599.
HOGENOMi HOG000059542.
HOVERGENi HBG001690.
InParanoidi Q01453.
OMAi EYSYGFA.
OrthoDBi EOG7034KD.
PhylomeDBi Q01453.
TreeFami TF330414.

Miscellaneous databases

ChiTaRSi PMP22. human.
GeneWikii Peripheral_myelin_protein_22.
GenomeRNAii 5376.
NextBioi 20856.
PROi Q01453.
SOURCEi Search...

Gene expression databases

Bgeei Q01453.
CleanExi HS_PMP22.
ExpressionAtlasi Q01453. baseline and differential.
Genevestigatori Q01453.

Family and domain databases

InterProi IPR003936. PMP22.
IPR004031. PMP22/EMP/MP20/Claudin.
IPR004032. PMP22_EMP_MP20.
[Graphical view ]
Pfami PF00822. PMP22_Claudin. 1 hit.
[Graphical view ]
PRINTSi PR01453. EPMEMFAMILY.
PR01458. PMYELIN22.
PROSITEi PS01221. PMP22_1. 1 hit.
PS01222. PMP22_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. Cited for: VARIANT CNT1A MET-118.

Entry informationi

Entry nameiPMP22_HUMAN
AccessioniPrimary (citable) accession number: Q01453
Secondary accession number(s): Q8WV01
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 1, 1993
Last sequence update: April 1, 1993
Last modified: October 29, 2014
This is version 155 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3