8y85

Structural highlights

Disease

B3A3_HUMAN Familial short QT syndrome. The disease is caused by variants affecting the gene represented in this entry.

Function

B3A3_HUMAN Sodium-independent anion exchanger which mediates the electroneutral exchange of chloride for bicarbonate ions across the cell membrane (PubMed:29167417, PubMed:7923606). May be involved in the regulation of intracellular pH, and the modulation of cardiac action potential (PubMed:29167417).^{[1] [2]}

References

1. ↑ Thorsen K, Dam VS, Kjaer-Sorensen K, Pedersen LN, Skeberdis VA, Jurevičius J, Treinys R, Petersen IMBS, Nielsen MS, Oxvig C, Morth JP, Matchkov VV, Aalkjær C, Bundgaard H, Jensen HK. Loss-of-activity-mutation in the cardiac chloride-bicarbonate exchanger AE3 causes short QT syndrome. Nat Commun. 2017 Nov 22;8(1):1696. PMID:29167417 doi:10.1038/s41467-017-01630-0
2. ↑ Yannoukakos D, Stuart-Tilley A, Fernandez HA, Fey P, Duyk G, Alper SL. Molecular cloning, expression, and chromosomal localization of two isoforms of the AE3 anion exchanger from human heart. Circ Res. 1994 Oct;75(4):603-14. PMID:7923606 doi:10.1161/01.res.75.4.603