Peripheral myelin protein 22
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Peripheral myelin protein 22
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| Identifiers | |||||||||||
| Symbol(s) | PMP22; DSS; CMT1A; CMT1E; GAS-3; HMSNIA; HNPP; MGC20769; Sp110 | ||||||||||
| External IDs | OMIM: 601097 MGI: 97631 HomoloGene: 7482 | ||||||||||
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| RNA expression pattern | |||||||||||
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| 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) |
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| 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]
[edit] References
- ^ 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.
- ^ Entrez Gene: PMP22 peripheral myelin protein 22.
[edit] 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:. 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.
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