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Peripheral myelin protein 22 

Peripheral myelin protein 22
Identifiers
Symbols PMP22; DSS; CMT1A; CMT1E; GAS-3; HMSNIA; HNPP; MGC20769; Sp110
External IDs OMIM: 601097 MGI: 97631 HomoloGene: 7482
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 5376 18858
Ensembl ENSG00000109099 ENSMUSG00000018217
Uniprot Q01453 Q5SXS3
Refseq NM_000304 (mRNA)
NP_000295 (protein)		 NM_008885 (mRNA)
NP_032911 (protein)
Location Chr 17: 15.07 - 15.11 Mb Chr 11: 62.95 - 62.98 Mb
Pubmed search [1] [2]

Peripheral myelin protein 22, also known as PMP22, is a human gene.

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.[1] Various mutations of the gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing of this gene results in three transcript variants that encode the same protein.[2]

References

  1. ^ Snipes GJ, Suter U, Welcher AA, Shooter EM (April 1992). "Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13)". J. Cell Biol. 117 (1): 225–38. PMID 1556154. PMC:2289391. 
  2. ^ "Entrez Gene: PMP22 peripheral myelin protein 22".

Further reading

  • Patel PI, Lupski JR (1994). "Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease.". Trends Genet. 10 (4): 128–33. PMID 7518101. 
  • Roa BB, Lupski JR (1995). "Molecular genetics of Charcot-Marie-Tooth neuropathy.". Adv. Hum. Genet. 22: 117–52. PMID 7762451. 
  • Nelis E, Haites N, Van Broeckhoven C (1999). "Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.". Hum. Mutat. 13 (1): 11–28. doi:10.1002/(SICI)1098-1004(1999)13:1<11::AID-HUMU2>3.0.CO;2-A. PMID 9888385. 
  • Jetten AM, Suter U (2000). "The peripheral myelin protein 22 and epithelial membrane protein family.". Prog. Nucleic Acid Res. Mol. Biol. 64: 97–129. PMID 10697408. 
 This article on a gene on chromosome 17 is a stub. You can help Wikipedia by expanding it.
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