GJA5, Gap junction alpha-5 protein, Connexin-40, Cx40
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],disease:Defects in GJA5 are a cause of idiopathic atrial fibrillation [MIM:108770]. Atrial fibrillation (AF) is the most common cardiac arrhythmia and is characterized by rapid and irregular activation of the atrium.,function: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.,similarity:Belongs to the connexin family. Alpha-type (group II) subfamily.,subunit:A connexon is composed of a hexamer of connexins.,
