Aliases for GJA5 Gene
External Ids for GJA5 Gene
Previous GeneCards Identifiers for GJA5 Gene
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]
GeneCards Summary for GJA5 Gene
GJA5 (Gap Junction Protein Alpha 5) is a Protein Coding gene. Diseases associated with GJA5 include Atrial Fibrillation, Familial, 11 and Atrial Standstill 1. Among its related pathways are Vesicle-mediated transport and NOTCH1 regulation of human endothelial cell calcification. Gene Ontology (GO) annotations related to this gene include gap junction channel activity and gap junction hemi-channel activity. An important paralog of this gene is GJA8.
UniProtKB/Swiss-Prot Summary for GJA5 Gene
One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
Gap channels (gap junctions) are specialized cell-cell contacts that provide direct intracellular communication. They allow passive diffusion of molecules up to 1 kDa, including nutrients, metabolites (glucose), ions (K+, Ca2+) and second messengers (IP3, cAMP).