SLC12A3 Proteins

Protein Information

The SLC12A3 gene encodes the thiazide-sensitive sodium-chloride symporter (NCC), which is critical for salt balance and blood pressure regulation in humans. This symporter is predominantly expressed in the distal convoluted tubule of the kidney, where it facilitates the reabsorption of sodium and chloride ions from the renal filtrate back into the bloodstream. NCC activity plays a vital role in maintaining extracellular fluid volume and potassium homeostasis, impacting systemic blood pressure. Mutations in SLC12A3 can lead to Gitelman syndrome, a hereditary salt-wasting disorder characterized by hypokalemic metabolic alkalosis, low blood pressure, and hypomagnesemia. This gene is regulated by the renin-angiotensin system, which modulates NCC activity through phosphorylation mediated by WNK kinases, thereby affecting renal sodium handling and blood pressure modulation. Research highlights the therapeutic potential of targeting NCC with thiazide diuretics to treat hypertension, emphasizing its importance in both physiological and pathological contexts. The dynamic regulation of NCC by hormonal pathways underscores its significance in fluid and electrolyte balance, contributing to cardiovascular health.

Synonyms

AI035291; chemokine (C-C); CKb10; CK-beta-10; MCP-4; MGC17134; Na-Cl cotransporter; NaCl electroneutral thiazide-sensitive cotransporter; Na-Cl symporter; NCC; NCC1; NCC-1; NCCT; SCYA13; SCYL1; Slc12a3; solute carrier family 12 (sodium/chloride transporter), member 3; solute carrier family 12 (sodium/chloride transporters), member 3; solute carrier family 12 member 3; solute carrier family 12, member 3; thiazide-sensitive Na-Cl cotransporter; thiazide-sensitive sodium-chloride cotransporter; TSC