PMP22
Sign in to saveAlso known as CMT1A, CMT1E, DSS, GAS-3, HMSNIA, HNPP, Sujojp110, GAS3
protein-coding gene in the species Homo sapiens
Gene data
PMP22- Name
- peripheral myelin protein 22
- Type
- protein-coding
- Position
- 15,176,316–15,272,292 (−)
- Aliases
- CIDP, CMT1A, CMT1E, DSS, GAS-3, GAS3, HMSNIA, HNPP, Sp110
- Ensembl
- ENSG00000109099
- RefSeq RNA
- NM_000304.4, NM_001281455.2, NM_001281456.2, NM_001330143.2, NM_153321.3
- RefSeq protein
- NP_000295.1, NP_001268384.1, NP_001268385.1, NP_001317072.1, NP_696996.1
This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. 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 results in multiple transcript variants. [provided by RefSeq, Jul 2013].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
peripheral myelin protein 22
- Symbol
- PMP22
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 17:15,176,316-15,272,292
- Strand
- Reverse (−)
- Assembly
- GRCh38
View on Ensembl →
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 9 more facts
- gene duplication association with
- Charcot–Marie–Tooth disease
- HomoloGene ID
- 7482
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/5376
- genomic end
- 15272292
- genomic start
- 15229773
- chromosome
- human chromosome 17
- cytogenetic location
- 17p12
- genetic association
- Dejerine–Sottas disease
via Wikidata · CC0