Scientific background: |
Solute carrier family 12 (sodium/chloride transporters), member 3, also called NCCT or TSC, 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. By fluorescence in situ hybridization, this gene is mapped to 16q13. 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. |
References: |
1. Glaudemans, B., Yntema, H. G., San-Cristobal, P., Schoots, J., Pfundt, R., Kamsteeg, E.-J., Bindels, R. J., Knoers, N. V. A. M., Hoenderop, J. G., Hoefsloot, L. H. Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome. Europ. J. Hum. Genet. 20: 263-270, 2012.
2. Yang, S.-S., Lo, Y.-F., Yu, I.-S., Lin, S.-W., Chang, T.-H., Hsu, Y.-J., Chao, T.-K., Sytwu, H.-K., Uchida, S., Sasaki, S., Lin, S.-H. Generation and analysis of the thiazide-sensitive Na(+)-Cl(-) cotransporter (Ncc/Slc12a3) Ser707X knockin mouse as a model of Gitelman syndrome. Hum. Mutat. 31: 1304-1315, 2010.
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