Peripheral myelin protein 22

Identifiers

PMP22; DSS; CMT1A; CMT1E; GAS-3; HMSNIA; HNPP; MGC20769; Sp110

External IDs

Gene ontology
Cellular Component:	• membrane fraction • integral to plasma membrane • membrane
Biological Process:	• synaptic transmission • peripheral nervous system development • sensory perception of sound • mechanosensory behavior • negative regulation of cell proliferation

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000304 (mRNA)
NP_000295 (protein)

NM_008885 (mRNA)
NP_032911 (protein)

Location

Pubmed search

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]

[edit] References

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.