This gene is a member of the connexin 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 with oculodentodigital dysplasia and heart malformations.
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Protein Aliases: alpha 1 connexin; connexin 43; Connexin-43; CX43; DFNB38; Gap junction 43 kDa heart protein; Gap junction alpha 1 protein; Gap junction alpha-1 protein; gap junction membrane channel protein alpha 1; gap junction protein, alpha 1, 43kDa; GJA1; GJAL; ODDD
Gene Aliases: AU042049; AVSD3; AW546267; CMDR; Cnx43; connexin43; CX43; Cx43alpha1; Cxn-43; EKVP; Gja-1; GJA1; GJAL; HLHS1; HSS; Npm1; ODDD; PPKCA