Aliases for SLC24A1 Gene
External Ids for SLC24A1 Gene
Previous GeneCards Identifiers for SLC24A1 Gene
This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. The encoded protein plays an important role in sodium/calcium exchange in retinal rod and cone photoreceptors by mediating the extrusion of one calcium ion and one potassium ion in exchange for four sodium ions. Mutations in this gene may play a role in congenital stationary night blindness. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
GeneCards Summary for SLC24A1 Gene
SLC24A1 (Solute Carrier Family 24 (Sodium/Potassium/Calcium Exchanger), Member 1) is a Protein Coding gene. Diseases associated with SLC24A1 include night blindness, congenital stationary , 1d, autosomal recessive and congenital stationary night blindness. Among its related pathways are Signaling by GPCR and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include symporter activity and calcium, potassium:sodium antiporter activity. An important paralog of this gene is SLC24A4.
UniProtKB/Swiss-Prot for SLC24A1 Gene
Critical component of the visual transduction cascade, controlling the calcium concentration of outer segments during light and darkness. Light causes a rapid lowering of cytosolic free calcium in the outer segment of both retinal rod and cone photoreceptors and the light-induced lowering of calcium is caused by extrusion via this protein which plays a key role in the process of light adaptation. Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+).