PMP2
Sign in to saveAlso known as FABP8, M-FABP, MP2, P2, peripheral myelin protein 2, Myelin P2 protein, CMT1G
protein-coding gene in the species Homo sapiens
Gene data
PMP2- Name
- peripheral myelin protein 2
- Type
- protein-coding
- Position
- 81,440,326–81,447,518 (−)
- Aliases
- CMT1G, FABP8, M-FABP, MP2, P2
- Ensembl
- ENSG00000147588
- RefSeq RNA
- NM_001348381.2, NM_002677.5
- RefSeq protein
- NP_001335310.1, NP_002668.1
The protein encoded by this gene localizes to myelin sheaths of the peripheral nervous system. The encoded protein can bind both the membrane layers of the sheaths and monomeric lipids, and is thought to provide stability to the sheath. A defect in this gene was shown to be a cause of dominant demyelinating CMT neuropathy. [provided by RefSeq, Jan 2017].
Gene Ontology
Biological process
Molecular function
Cellular component
via MyGene.info
Gene · Ensembl
peripheral myelin protein 2
- Symbol
- PMP2
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 8:81,440,326-81,447,518
- Strand
- Reverse (−)
- Assembly
- GRCh38
View on Ensembl →
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- Protein PMP2 PDB 1pmp.png
Show 5 more facts
- HomoloGene ID
- 20589
- exact match
- identifiers.org/ncbigene/5375
- genomic end
- 81447439
- genomic start
- 82352561
- cytogenetic location
- 8q21.13
Sources (4)
via Wikidata · CC0
Connections
Q180686
Entity
human chromosome 8
Entity
Ensembl genome database project
Entity
protein
Entity
enzyme
Entity
Wikidata
Entity
gene
Entity
chromosome
Entity
digital object identifier
Entity
central nervous system
Entity
peripheral nervous system
Entity
cytoskeleton
Entity
bibcode
Entity
human genome
Entity
Q229883
Entity
base pair
Entity
locus
Entity
gene expression
Entity
Online Mendelian Inheritance in Man
Entity
Schwann cell
Entity