GJA5
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.
Involvement in disease
Atrial standstill 1
ATRST1
A 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.
None
The disease may be caused by variants affecting distinct genetic loci, including the gene represented in this entry. A rare GJA5 genotype has been detected in combination with a mutation in SCN5A in a large family with atrial standstill.
Atrial fibrillation, familial, 11
ATFB11
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the connexin family. Alpha-type (group II) subfamily.
Cellular localization
- Cell membrane
- Multi-pass membrane protein
- Cell junction
- Gap junction
Alternative names
Gap junction alpha-5 protein, Connexin-40, Cx40, GJA5