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
- Aliases
- CIDP, CMT1A, CMT1E, DSS, GAS-3, GAS3, HMSNIA, HNPP, Sp110
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].
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
Show 5 more facts
- HomoloGene ID
- 7482
- exact match
- identifiers.org/ncbigene/5376
- genomic end
- 15272292
- genomic start
- 15229773
- cytogenetic location
- 17p12
via Wikidata · CC0
Connections
Q180686
Entity
myelin
Entity
human chromosome 17
Entity
Ensembl genome database project
Entity
human
Entity
protein
Entity
International Standard Book Number
Entity
Wikidata
Entity
gene
Entity
chromosome
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ribonucleic acid
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amino acid
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neuron
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digital object identifier
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central nervous system
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plasma membrane
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endoplasmic reticulum
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Golgi apparatus
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dalton
Entity
peripheral nervous system
Entity