靶标：
SLC12A3
产品别名：
NCC； NCCT； TSC； SLC12A3； solute carrier family 12 member 3； solute carrier family 12 member 3； solute carrier family 12 member 3； Na-Cl cotransporter； Na-Cl symporter； NaCl electroneutral thiazide-sensitive cotransporter； solute carrier family 12 (sodium/chloride transporter), member 3； thiazide-sensitive Na-Cl cotransporter； thiazide-sensitive sodium-chloride cotransporter； 钠氯协同转运蛋白(NCCT)； 钠氯离子转运蛋白；
背景信息：
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],
