| Connexin43 | |||||||||
|---|---|---|---|---|---|---|---|---|---|
 connexin 43 carboxyl terminal domain | |||||||||
| Identifiers | |||||||||
| Symbol | Connexin43 | ||||||||
| Pfam | PF03508 | ||||||||
| InterPro | IPR013124 | ||||||||
| TCDB | 1.A.24 | ||||||||
| |||||||||
Gap junction alpha-1 protein (GJA1), also known as connexin 43 (Cx43), is a protein that in humans is encoded by the GJA1 gene on chromosome 6.[5][6][7] As a connexin, GJA1 is a component of gap junctions, which allow for gap junction intercellular communication (GJIC) between cells to regulate cell death, proliferation, and differentiation.[8] As a result of its function, GJA1 is implicated in many biological processes, including muscle contraction, embryonic development, inflammation, and spermatogenesis, as well as diseases, including oculodentodigital dysplasia (ODDD), heart malformations, and cancers.[7][9][10]
- ^ a b c GRCh38: Ensembl release 89: ENSG00000152661 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000050953 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Boyadjiev SA, Jabs EW, LaBuda M, Jamal JE, Torbergsen T, Ptácek LJ, Rogers RC, Nyberg-Hansen R, Opjordsmoen S, Zeller CB, Stine OC, Stalker HJ, Zori RT, Shapiro RE (May 1999). "Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23". Genomics. 58 (1): 34–40. doi:10.1006/geno.1999.5814. PMID 10331943.
- ^ Fishman GI, Eddy RL, Shows TB, Rosenthal L, Leinwand LA (May 1991). "The human connexin gene family of gap junction proteins: distinct chromosomal locations but similar structures". Genomics. 10 (1): 250–256. doi:10.1016/0888-7543(91)90507-B. PMID 1646158.
- ^ a b "Entrez Gene: GJA1 gap junction protein, alpha 1, 43kDa".
- ^ Cheng JC, Chang HM, Fang L, Sun YP, Leung PC (Jul 2015). "TGF-β1 up-regulates connexin43 expression: a potential mechanism for human trophoblast cell differentiation". Journal of Cellular Physiology. 230 (7): 1558–1566. doi:10.1002/jcp.24902. PMID 25560303. S2CID 28968035.
- ^ Chevallier D, Carette D, Segretain D, Gilleron J, Pointis G (Apr 2013). "Connexin 43 a check-point component of cell proliferation implicated in a wide range of human testis diseases". Cellular and Molecular Life Sciences. 70 (7): 1207–1220. doi:10.1007/s00018-012-1121-3. PMC 11113700. PMID 22918484. S2CID 11855947.
- ^ Vliagoftis H, Ebeling C, Ilarraza R, Mahmudi-Azer S, Abel M, Adamko D, Befus AD, Moqbel R (2014). "Connexin 43 expression on peripheral blood eosinophils: role of gap junctions in transendothelial migration". BioMed Research International. 2014: 803257. doi:10.1155/2014/803257. PMC 4109672. PMID 25110696.