|Other Names||Solute carrier family 12 member 3, Na-Cl cotransporter, NCC, Na-Cl symporter, Thiazide-sensitive sodium-chloride cotransporter, SLC12A3, NCC, TSC|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Key mediator of sodium and chloride reabsorption in this nephron segment, accounting for a significant fraction of renal sodium reabsorption.|
|Cellular Location||Cell membrane; Multi-pass membrane protein.|
|Tissue Location||Predominant in kidney.|
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This gene encodes a renal thiazide-sensitivesodium-chloride cotransporter that is important for electrolytehomeostasis. This cotransporter mediates sodium and chloridereabsorption in the distal convoluted tubule. Mutations in thisgene cause Gitelman syndrome, a disease similar to Bartter'ssyndrome, that is characterized by hypokalemic alkalosis combinedwith hypomagnesemia, low urinary calcium, and increased reninactivity associated with normal blood pressure. This cotransporteris the target for thiazide diuretics that are used for treatinghigh blood pressure. Multiple transcript variants encodingdifferent isoforms have been found for this gene. [provided byRefSeq].
Bailey, S.D., et al. Diabetes Care (2010) In press :Rose, J.E., et al. Mol. Med. 16 (7-8), 247-253 (2010) :Zhou, B., et al. J. Am. Soc. Nephrol. 21(1):82-92(2010)Talmud, P.J., et al. Am. J. Hum. Genet. 85(5):628-642(2009)Ridker, P.M., et al. Circ Cardiovasc Genet 2(1):26-33(2009)
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