Aliases for SLC12A3 Gene
External Ids for SLC12A3 Gene
Previous GeneCards Identifiers for SLC12A3 Gene
This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause Gitelman syndrome, a disease similar to Bartter's syndrome, that is characterized by hypokalemic alkalosis combined with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. This cotransporter is the target for thiazide diuretics that are used for treating high blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for SLC12A3 Gene
SLC12A3 (Solute Carrier Family 12 Member 3) is a Protein Coding gene. Diseases associated with SLC12A3 include Gitelman Syndrome and Hypokalemia. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Diuretics Pathway, Pharmacodynamics. GO annotations related to this gene include transporter activity and sodium:chloride symporter activity. An important paralog of this gene is SLC12A1.
UniProtKB/Swiss-Prot for SLC12A3 Gene
Electroneutral sodium and chloride ion cotransporter. In kidney distal convoluted tubules, key mediator of sodium and chloride reabsorption (PubMed:21613606, PubMed:22009145). Receptor for the proinflammatory cytokine IL18. Contributes to IL18-induced cytokine production, including IFNG, IL6, IL18 and CCL2. May act either independently of IL18R1, or in a complex with IL18R1 (By similarity).