Aliases for SLC8A1 Gene
External Ids for SLC8A1 Gene
Previous HGNC Symbols for SLC8A1 Gene
Previous GeneCards Identifiers for SLC8A1 Gene
In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due to release of Ca(2+) from intracellular stores. However, some Ca(2+) also enters the cell through the sarcolemma (plasma membrane). During relaxation, Ca(2+) is sequestered within the intracellular stores. To prevent overloading of intracellular stores, the Ca(2+) that entered across the sarcolemma must be extruded from the cell. The Na(+)-Ca(2+) exchanger is the primary mechanism by which the Ca(2+) is extruded from the cell during relaxation. In the heart, the exchanger may play a key role in digitalis action. The exchanger is the dominant mechanism in returning the cardiac myocyte to its resting state following excitation.[supplied by OMIM, Apr 2004]
GeneCards Summary for SLC8A1 Gene
SLC8A1 (Solute Carrier Family 8 Member A1) is a Protein Coding gene. Diseases associated with SLC8A1 include aromatase deficiency and corneal dystrophy, schnyder type. Among its related pathways are cGMP-PKG signaling pathway and Hypertrophic cardiomyopathy (HCM). GO annotations related to this gene include calmodulin binding and cytoskeletal protein binding. An important paralog of this gene is ADGRV1.
UniProtKB/Swiss-Prot for SLC8A1 Gene
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 (PubMed:1374913, PubMed:11241183, PubMed:1476165). 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.
The Na+/Ca2+ exchanger (NCX) is a low affinity, high capacitance calcium antiporter membrane protein that functions to regulate intracellular calcium concentrations. It is located on the plasma, mitochondrial and endoplasmic reticular membranes of excitable cells.