Peripheral myelin protein 22

Peripheral myelin protein 22
Identifiers
Symbols	PMP22 ; DSS; CMT1A; CMT1E; GAS-3; HMSNIA; HNPP; MGC20769; Sp110
External IDs	Template:OMIM5 Template:MGI HomoloGene: 7482
Gene ontology Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE PMP22 210139 s at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

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

This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Various mutations of this 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.

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.CS1 maint: Multiple names: authors list (link)
• 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.