Aliases for SLC24A5 Gene
External Ids for SLC24A5 Gene
Previous GeneCards Identifiers for SLC24A5 Gene
This gene is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein with 2 large hydrophilic loops and 2 sets of multiple transmembrane-spanning segments. Sequence variation in this gene has been associated with differences in skin pigmentation. [provided by RefSeq, Jul 2008]
GeneCards Summary for SLC24A5 Gene
SLC24A5 (Solute Carrier Family 24 Member 5) is a Protein Coding gene. Diseases associated with SLC24A5 include Albinism, Oculocutaneous, Type Vi and Oculocutaneous Albinism. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include symporter activity and calcium, potassium:sodium antiporter activity. An important paralog of this gene is SLC24A3.
UniProtKB/Swiss-Prot Summary for SLC24A5 Gene
Cation exchanger involved in pigmentation, possibly by participating in ion transport in melanosomes. Predominant sodium-Calcium exchanger in melanocytes. Probably transports 1 Ca(2+) and 1 K(+) to the melanosome in exchange for 4 cytoplasmic Na(+).