| Entrez gene ID | | 6559 |
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| Official gene symbol | | SLC12A3 |
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| Full name | | solute carrier family 12 (sodium/chloride transporters), member 3 |
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| Aliases | | ,FLJ96318,NCCT,TSC, |
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| Gene summary | | 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 Bartter's 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. [provided by RefSeq] |
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| Location | | Chromosome: 16 Locus: 16q13 |
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| Gene position | | 56899119 - 56949762 Map Viewer |
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| Gene orientation | | plus |
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| Gene size | | 50644 bp |
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| Gene sequence |
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| OMIM ID | | 600968 |
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