DISEASES

Disease-gene associations mined from literature

Literature associating SLC8A1 and arrhythmogenic right ventricular cardiomyopathy

SLC8A1 [ENSP00000384763]

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 ...

Linkouts:  STRING  Pharos  UniProt