|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||Electroneutral sodium and chloride ion cotransporter. In kidney distal convoluted tubules, key mediator of sodium and chloride reabsorption (PubMed:21613606, PubMed:22009145). Receptor for the proinflammatory cytokine IL18. Contributes to IL18-induced cytokine production, including IFNG, IL6, IL18 and CCL2. May act either independently of IL18R1, or in a complex with IL18R1 (By similarity).|
|Cellular Location||Cell membrane; Multi-pass membrane protein|
|Tissue Location||Predominantly expressed in kidney (PubMed:8812482). Not detected in normal aorta, but abundantly expressed in fatty streaks and advanced atherosclerotic lesions (at protein level) (PubMed:26099046)|
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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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