SLC12A3 cotransports Cl-, Na+ from extracellular region to cytosol

Stable Identifier
Reaction [transition]
Homo sapiens
Na+/Cl- cotransport
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The SLC12A3 gene encodes for the Thiazide-sensitive sodium-chloride cotransporter (TSC). TSC mediates sodium and chloride removal from the distal convoluted tubule of the kidney (Mastroianni N et al, 1996). Defects in SLC12A3 are the cause of Gitelman syndrome (GS). GS is an autosomal recessive disorder that allows the kidneys to pass sodium, magnesium, chloride, and potassium into the urine, rather than being reabsorbed into the bloodstream (Simon et al. 1996). This cotransporter is the major target for thiazide-type diuretics, used in the treatment of hypertension, extracellular fluid overload and renal stone disease.

Literature References
PubMed ID Title Journal Year
8528245 Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter

Koolen, M, Simon, DB, Molina, AM, Vaara, I, Lifton, RP, Gainza, FJ, Gitleman, HJ, Cushner, HM, Karet, FE, Ellison, D, Iwata, F, Nelson-Williams, C, Bia, MJ

Nat Genet 1996
8812482 Molecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3)

Zollo, M, De Fusco, M, Bettinelli, A, Casari, G, Ballabio, A, Arrigo, G, Mastroianni, N, Zuffardi, O

Genomics 1996
Catalyst Activity

sodium:chloride symporter activity of SLC12A3 [plasma membrane]

Orthologous Events
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