Literature associating SLC8A1 and arrhythmogenic right ventricular cardiomyopathy
Solute carrier family 8 (sodium/calcium exchanger), member 1; Mediates the exchange of one Ca(2+) ion against three to four Na(+) ions across the cell membrane, and thereby contributes to the regulation of cytoplasmic Ca(2+) levels and Ca(2+)- dependent cellular processes. Contributes to Ca(2+) transport during excitation-contraction coupling in muscle. In a first phase, voltage-gated channels mediate the rapid increase of cytoplasmic Ca(2+) levels due to release of Ca(2+) stores from the endoplasmic reticulum. SLC8A1 mediates the export of Ca(2+) from the cell during the next phase, so that cytoplasmic Ca(2+) levels rapidly return to baseline. Required for normal embryonic heart development and the onset of heart contractions; Solute carriers
Synonyms: SLC8A1, SLC8A1p, hSLC8A1, E7EV41, E9PB98 ...