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Antigen Affinity Purified from Pooled Serum
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: chemokine (C-C); CK-beta-10; CKb10; MCP-4; MGC17134; Na-Cl cotransporter; Na-Cl symporter; NaCl electroneutral thiazide-sensitive cotransporter; NCC; NCC-1; NCC1; SCYA13; SCYL1; 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
基因别名: AI035291; NCC; NCCT; SLC12A3; TSC
UniProt ID: (Human) P55017, (Rat) P55018, (Mouse) P59158
Entrez Gene ID: (Human) 6559, (Rat) 54300, (Mouse) 20497