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 (Sodium/Calcium Exchanger), Member 1) is a Protein Coding gene. Diseases associated with SLC8A1 include aromatase deficiency. Among its related pathways are CREB Pathway and Platelet homeostasis. 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
Rapidly transports Ca(2+) during excitation-contraction coupling. Ca(2+) is extruded from the cell during relaxation so as to prevent overloading of intracellular stores.
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. Using the electrochemical gradient of Na+, one Ca2+ ion is transported in exchange for three Na+ ions. The Na+/Ca2+ exchanger compliments the high affinity, low capacitance Ca2+-ATPase and together, they are involved in a variety of cellular functions including control of neurosecretion, relaxation of cardiac muscle, maintenance of intracellular Ca2+ stores in the endoplasmic and sarcoplasmic reticuli and excitation-relaxation coupling. Under normal physiological conditions, Na+/Ca2+ exchangers export Ca+ from the cell. However, under cellular stress, such as excitotoxicity, they can switch to 'reverse mode', which has a protective effect.