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; Membrane protein, integral; Motility/polarity/chemotaxis; Channel, misc.
Chromosomal Location of Human Ortholog: 1q21.1
Cellular Component: cell projection; connexon complex; gap junction; integral to plasma membrane
Molecular Function: gap junction hemi-channel activity
Biological Process: angiogenesis; artery morphogenesis; embryonic heart tube development; embryonic limb morphogenesis; gap junction assembly; negative regulation of blood pressure; negative regulation of glomerular filtration; positive regulation of vasoconstriction; positive regulation of vasodilation; potassium ion transport; protein oligomerization; skeletal development; transmembrane transport
Disease: Atrial Fibrillation, Familial, 11; Atrial Standstill 1; Chromosome 1q21.1 Deletion Syndrome, 1.35-mb
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