GJC2

GJC2
Identifiers
AliasesGJC2, CX46.6, Cx47, GJA12, HLD2, LMPH1C, PMLDAR, SPG44, gap junction protein gamma 2
External IDsMGI: 2153060 HomoloGene: 10715 GeneCards: GJC2
Orthologs
SpeciesHumanMouse
Entrez

57165

118454

Ensembl

ENSG00000198835

ENSMUSG00000043448

UniProt

Q5T442

Q8BQU6

RefSeq (mRNA)

NM_020435

NM_080454
NM_175452

RefSeq (protein)

NP_065168

NP_536702
NP_780661

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

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

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

Further reading

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


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