- GJA1
Gap junction protein, alpha 1, 43kDa, also known as GJA1, is a human
gene .PBB_Summary
section_title =
summary_text = This gene is a member of theconnexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated withoculodentodigital dysplasia and heart malformations. [cite web | title = Entrez Gene: GJA1 gap junction protein, alpha 1, 43kDa| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2697| accessdate = ]ee also
*
Connexin
*Hypoplastic left heart syndrome References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Saffitz JE, Laing JG, Yamada KA |title=Connexin expression and turnover : implications for cardiac excitability. |journal=Circ. Res. |volume=86 |issue= 7 |pages= 723–8 |year= 2000 |pmid= 10764404 |doi=PBB_Controls
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