GJB5

gap junction protein, beta 5, 31.1kDa
Identifiers
Symbol GJB5
External IDs OMIM604493 MGI95723 HomoloGene3858 GeneCards: GJB5 Gene
Orthologs
Species Human Mouse
Entrez 2709 14622
Ensembl ENSG00000189280 ENSMUSG00000042357
UniProt O95377 Q02739
RefSeq (mRNA) NM_005268 NM_010291
RefSeq (protein) NP_005259 NP_034421
Location (UCSC) Chr 1:
34.99 – 35 Mb
Chr 4:
127.03 – 127.04 Mb
PubMed search [1] [2]

Gap junction beta-5 protein (GJB5), also known as connexin-31.1 (Cx31.1), is a protein that in humans is encoded by the GJB5 gene.[1]

Function

Gap junctions are conduits that allow the direct cell-to-cell passage of small cytoplasmic molecules, including ions, metabolic intermediates, and second messengers, and thereby mediate intercellular metabolic and electrical communication. Gap junction channels consist of connexin protein subunits, which are encoded by a multigene family.[1]

References

Further reading

  • Canova C, Hashibe M, Simonato L, et al. (2009). "Genetic associations of 115 polymorphisms with cancers of the upper aerodigestive tract across 10 European countries: the ARCAGE project.". Cancer Res. 69 (7): 2956–65. doi:10.1158/0008-5472.CAN-08-2604. PMID 19339270. 
  • Richard G, Smith LE, Bailey RA, et al. (1998). "Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.". Nat. Genet. 20 (4): 366–9. doi:10.1038/3840. PMID 9843209. 

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