| SLC12A3 |
| LOCUS ID | 6559 | ||||||||||
| GENE_SYMBOL | SLC12A3 | ||||||||||
| GENE NAME | solute carrier famil | ||||||||||
| 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 th |
| OBSERVATIONS |
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| 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 |