Peripheral myelin protein 22

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Peripheral myelin protein 22
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
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]


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.


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


  1. ^ "Entrez Gene: PMP22 peripheral myelin protein 22". 
  2. ^ Snipes GJ, Suter U, Welcher AA, Shooter EM (Apr 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 HW (May 1999). "Peripheral myelin protein 22 and protein zero: a novel association in peripheral nervous system myelin" (PDF). The Journal of Neuroscience (Society for Neuroscience) 19 (9): 3396–403. PMID 10212299. 

Further reading[edit]

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