Gene Symbol | GJA5 |
Entrez Gene ID | 2702 |
Full Name | gap junction protein alpha 5 |
Synonyms | ATFB11,CX40 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. Mutations in this gene may be associated with atrial fibrillation. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Atrial fibrillation, familial, 11, 614049 (3); Atrial standstill, digenic (GJA5/SCN5A), 108770 (3) |