| SLC12A3 |
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| Identifiers |
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| Aliases | SLC12A3, NCC, NCCT, TSC, solute carrier family 12 member 3, Sodium-chloride symporter |
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| External IDs | OMIM: 600968; MGI: 108114; HomoloGene: 287; GeneCards: SLC12A3; OMA:SLC12A3 - orthologs |
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| Gene location (Human) |
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| | Chr. | Chromosome 16 (human) |
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| | Band | 16q13 | Start | 56,865,207 bp |
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| End | 56,915,850 bp |
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| Gene location (Mouse) |
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| | Chr. | Chromosome 8 (mouse) |
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| | Band | 8 C5|8 46.46 cM | Start | 95,055,829 bp |
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| End | 95,092,842 bp |
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| Gene ontology |
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| Molecular function | | | Cellular component | | | Biological process | | | Sources:Amigo / QuickGO |
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| Wikidata |
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The sodium-chloride symporter (also known as Na+-Cl− cotransporter, NCC or NCCT, or as the thiazide-sensitive Na+-Cl− cotransporter or TSC) is a cotransporter in the kidney which has the function of reabsorbing sodium and chloride ions from the tubular fluid into the cells of the distal convoluted tubule of the nephron. It is a member of the SLC12 cotransporter family of electroneutral cation-coupled chloride cotransporters. In humans, it is encoded by the SLC12A3 gene (solute carrier family 12 member 3) located in 16q13.
A loss of NCC function causes Gitelman syndrome, an autosomic recessive disease characterized by salt wasting and low blood pressure, hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. Over a hundred different mutations in the NCC gene have been identified.