| Entrez gene ID | | 6557 |
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| Official gene symbol | | SLC12A1 |
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| Full name | | solute carrier family 12 (sodium/potassium/chloride transporters), member 1 |
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| Aliases | | ,BSC1,MGC48843,NKCC2, |
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| Gene summary | | This gene encodes a kidney-specific sodium-potassium-chloride cotransporter that is expressed on the luminal membrane of renal epithelial cells of the thick ascending limb of Henle's loop and the macula densa. It plays a key role in concentrating urine and accounts for most of the NaCl resorption. It is sensitive to such diuretics as furosemide and bumetanide. Some Bartter-like syndromes result from defects in this gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity in humans has not been experimentally proven. |
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| Location | | Chromosome: 15 Locus: 15q15-q21.1 |
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| Gene position | | 48498498 - 48596275 Map Viewer |
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| Gene orientation | | plus |
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| Gene size | | 97778 bp |
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| Gene sequence |
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| OMIM ID | | 600839 |
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