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slc12a1

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Official Full Name
solute carrier family 12 (sodium/potassium/chloride transporter), member 1
Background
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 Henles 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.[provided by RefSeq, May 2010]
Synonyms
SLC12A1; solute carrier family 12 (sodium/potassium/chloride transporter), member 1; BSC1; NKCC2; solute carrier family 12 member 1; NKCC2A variant A; Na-K-2Cl cotransporter; kidney-specific Na-K-Cl symporter; bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2; solute carrier family 12 (sodium/potassium/chloride transporters), member 1; MGC48843

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