GJC2

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GJC2
Identifiers
Aliases GJC2, CX46.6, Cx47, GJA12, HLD2, LMPH1C, PMLDAR, SPG44, gap junction protein gamma 2
External IDs MGI: 2153060 HomoloGene: 10715 GeneCards: GJC2
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_020435

NM_080454
NM_175452

RefSeq (protein)

NP_065168

NP_536702.3
NP_780661.2
NP_536702
NP_780661

Location (UCSC) Chr 1: 228.15 – 228.16 Mb Chr 11: 59.18 – 59.18 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Gap junction gamma-2 (GJC2), also known as connexin-46.6 (Cx46.6) and connexin-47 (Cx47) and gap junction alpha-12 (GJA12), is a protein that in humans is encoded by the GJC2 gene.[3]

Function[edit]

This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in central myelination and is involved in peripheral myelination in humans.[3]

Clinical significance[edit]

Homozygous or compound heterozygous defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1.[3]

Heterozygous missense mutations in this same gene cause pubertal onset hereditary lymphedema.

References[edit]

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.