PMP22
Sign in to saveAlso known as CMT1A, CMT1E, DSS, GAS-3, HMSNIA, HNPP, Sujojp110, GAS3
protein-coding gene in the species Homo sapiens
In the Vinony graph
Vinony's link graph records 16 inbound references to PMP22, and connects out to PubMed, myelin and human chromosome 17.
It is catalogued under the topic Genes on human chromosome 17.
Vinony links it to 9 Wikipedia language editions.
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
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