MGP Database

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MGP001211

UniProt Annotations

Entry Information
Gene Namegap junction protein, alpha 5, 40kDa
Protein EntryCXA5_HUMAN
UniProt IDP36382
SpeciesHuman
Comments
Comment typeDescription
DiseaseAtrial fibrillation, familial, 11 (ATFB11) [MIM:614049]: 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. {ECO:0000269|PubMed:20650941}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseAtrial standstill 1 (ATRST1) [MIM:108770]: 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. {ECO:0000269|PubMed:16790700}. Note=The disease may be caused by mutations 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.
FunctionOne 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.
SimilarityBelongs to the connexin family. Alpha-type (group II) subfamily. {ECO:0000305}.
Subcellular LocationCell membrane; Multi-pass membrane protein. Cell junction, gap junction.
SubunitA connexon is composed of a hexamer of connexins.
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