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This product is a 113.1 kDa Human SLC12A3 membrane protein expressed in HEK293. The protein is for research use only and is not approved for use in humans or in clinical diagnosis.
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.
Alternative Names
NCC; TSC; NCCT; 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; SLC12A3; Solute carrier family 12 member 3