Peripheral myelin protein 22

PMP22
Identifiers
Aliases	PMP22, CMT1A, CMT1E, DSS, GAS-3, HMSNIA, HNPP, Sp110, GAS3, peripheral myelin protein 22, CIDP
External IDs	MGI: 97631 HomoloGene: 7482 GeneCards: PMP22
Gene ontology Molecular function • protein binding Cellular component • integral component of membrane • compact myelin • plasma membrane • membrane • bicellular tight junction Biological process • myelination • cell differentiation • bleb assembly • cell death • negative regulation of neuron projection development • peripheral nervous system development • negative regulation of cell proliferation • chemical synaptic transmission Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	5376	18858
Ensembl	ENSG00000109099	ENSMUSG00000018217
UniProt	Q01453	P16646
RefSeq (mRNA)	NM_000304 NM_001281455 NM_001281456 NM_153321 NM_153322 NM_001330143	NM_001302255 NM_001302257 NM_001302258 NM_001302259 NM_001302260 NM_001302261 NM_008885
RefSeq (protein)	NP_000295 NP_001268384 NP_001268385 NP_001317072 NP_696996 NP_696997	NP_001289184 NP_001289186 NP_001289187 NP_001289188 NP_001289189 NP_001289190 NP_032911
Location (UCSC)	Chr 17: 15.23 – 15.27 Mb	Chr 11: 63.13 – 63.16 Mb
PubMed search

5376

18858

ENSG00000109099

ENSMUSG00000018217

Q01453

P16646

NM_001330143

NM_001302261
NM_008885

NP_696997

NP_001289190
NP_032911

Growth arrest-specific protein 3 (GAS-3), also called peripheral myelin protein 22 (PMP22), is a protein which in humans is encoded by the PMP22 gene.

PMP22 is a 22 kDa transmembrane glycoprotein made up of 160 amino acids, and is mainly expressed in the Schwann cells of the peripheral nervous system. Schwann cells show high expression of PMP22, where it can constitute 2-5% of total protein content in compact myelin. Compact myelin is the bulk of the peripheral neuron's myelin sheath, a protective fatty layer that provides electrical insulation for the neuronal axon. The level of PMP22 expression is relatively low in the central nervous system of adults.

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Wikipedia