Gap Junction Alpha-5 Protein (GJA5) Human Recombinant Protein

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]

GJA5: 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. Defects in GJA5 are a cause of familial atrial standstill (FAS). Atrial standstill is an extremely rare arrhythmia, characterized by the absence of electrical and mechanical activity in the atria. Electrocardiographically, it is characterized by bradycardia, the absence of P waves, and a junctional narrow complex escape rhythm. Defects in GJA5 are the cause of familial atrial fibrillation type 11 (ATFB11). ATFB11 is a familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. Belongs to the connexin family. Alpha-type (group II) subfamily.

Protein type: Membrane protein, multi-pass; Channel, misc.; Motility/polarity/chemotaxis; Membrane protein, integral

Chromosomal Location of Human Ortholog: 1q21.1

Cellular Component: connexon complex; cell projection; integral to plasma membrane; gap junction

Molecular Function: gap junction hemi-channel activity

Biological Process: gap junction assembly; negative regulation of glomerular filtration; positive regulation of vasodilation; protein oligomerization; positive regulation of vasoconstriction; embryonic heart tube development; artery morphogenesis; angiogenesis; negative regulation of blood pressure; skeletal development; transmembrane transport; potassium ion transport; embryonic limb morphogenesis

Disease: Atrial Standstill 1; Atrial Fibrillation, Familial, 11