Peripheral myelin protein 22

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Peripheral myelin protein 22
Identifiers
Symbols PMP22 ; CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP; Sp110
External IDs OMIM601097 MGI97631 HomoloGene7482 ChEMBL: 1293298 GeneCards: PMP22 Gene
RNA expression pattern
PBB GE PMP22 210139 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 5376 18858
Ensembl ENSG00000109099 ENSMUSG00000018217
UniProt Q01453 P16646
RefSeq (mRNA) NM_000304 NM_008885
RefSeq (protein) NP_000295 NP_032911
Location (UCSC) Chr 17:
15.13 – 15.17 Mb
Chr 11:
63.13 – 63.16 Mb
PubMed search [1] [2]

Peripheral myelin protein 22, also known as PMP22, is a protein which in humans is encoded by the PMP22 gene. Alternative splicing of this gene results in three transcript variants that encode the same protein.[1]

Function[edit]

The integral membrane protein encoded by this gene is a hydrophobic, tetraspan glycoprotein expressed mainly in Schwann cells and is a major component of compact myelin in the peripheral nervous system.[2]

Clinical significance[edit]

Various mutations of the gene are causes of Charcot–Marie–Tooth disease type IA, Dejerine–Sottas disease, and hereditary neuropathy with liability to pressure palsy.

Interactions[edit]

Peripheral myelin protein 22 has been shown to interact with myelin protein zero.[3]

References[edit]

  1. ^ "Entrez Gene: PMP22 peripheral myelin protein 22". 
  2. ^ Snipes GJ, Suter U, Welcher AA, Shooter EM (April 1992). "Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13)". The Journal of Cell Biology 117 (1): 225–38. doi:10.1083/jcb.117.1.225. PMC 2289391. PMID 1556154. 
  3. ^ D'Urso, D; Ehrhardt P; Müller H W (May 1999). "Peripheral myelin protein 22 and protein zero: a novel association in peripheral nervous system myelin". J. Neurosci. (United States: Society for Neuroscience) 19 (9): 3396–403. ISSN 1529-2401. PMID 10212299. 

Further reading[edit]

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