GJC2
Identifiers
AliasesGJC2, CX46.6, Cx47, GJA12, HLD2, LMPH1C, PMLDAR, SPG44, gap junction protein gamma 2, LMPHM3
External IDsOMIM: 608803 MGI: 2153060 HomoloGene: 10715 GeneCards: GJC2
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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[3][4]
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.[5]

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.[5]

Clinical significance

Homozygous or compound heterozygous defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1.[5]

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

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000198835 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000043448 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b c "Entrez Gene: gap junction protein".

Further reading

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