| SLC12A3 |
| LOCUS ID | 6559 | ||||||||||
| GENE_SYMBOL | SLC12A3 | ||||||||||
| GENE NAME | solute carrier family 12 (sodium/chloride transporter), member 3 | ||||||||||
| SYNONYMNS | NCC, TSC, NCCT | ||||||||||
| CHROMOSOME | 16 | ||||||||||
| HOMOLOGENE ID | 287 |
| microRNAs | NA | NA |
| GENE SUMMARY |
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| 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, Jul 2008] |
| OBSERVATIONS |
|---|
| Complication | Evidence | PMID |
| Nephropathy | 1. It has been reported that an NCCT gene mutation is closely associated with diabetic nephropathy, suggesting an important role of Cl metabolism in diabetic nephropathy. 2. Large-scale genotyping efforts performed on Japanese subjects with type 2 diabetes have implicated polymorphisms in solute carrier family 12 (sodium/chloride transporters) member 3 (SLC12A3) as being associated with advanced diabetic nephropathy. | 17593691, 18263927 |