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

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

Stable Identifier

R-HSA-426130

Type

Reaction [transition]

Species

Homo sapiens

Compartment

plasma membrane

Synonyms

Na+/Cl- cotransport

ReviewStatus

5/5

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

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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