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: Motility/polarity/chemotaxis; Channel, misc.; Membrane protein, multi-pass; Membrane protein, integral
Cellular Component: connexon complex; cell projection; membrane; integral to plasma membrane; integral to membrane; gap junction; plasma membrane; cell junction
Molecular Function: gap junction hemi-channel activity; gap junction channel activity
Biological Process: blood vessel development; gap junction assembly; negative regulation of glomerular filtration; regulation of vasodilation; positive regulation of vasodilation; protein oligomerization; positive regulation of vasoconstriction; regulation of systemic arterial blood pressure; artery morphogenesis; embryonic heart tube development; regulation of systemic arterial blood pressure by renal system process; cell communication; negative regulation of blood pressure; skeletal development; potassium ion transport; embryonic limb morphogenesis
Show more