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slc12a3

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Official Full Name
solute carrier family 12 (sodium/chloride transporter), member 3
Background
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 Bartters 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.
Synonyms
SLC12A3; solute carrier family 12 (sodium/chloride transporters), member 3; solute carrier family 12 member 3; NCCT; Na-Cl symporter; thiazide-sensitive Na-Cl cotransporter; thiazide-sensitive sodium-chloride cotransporter; NaCl electroneutral thiazide-se; solute carrier family 12 (sodium/chloride transporter), member 3; wu:fj83c03; si:ch211-122c9.4

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