Full name: solute carrier family 12 member 1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: BSC; BSC-1; BSC1; CCC2; NKCC2

Summary: 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 Henle's 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]

Expression: Restricted expression toward kidney (RPKM 306.7)

Gene size: 97777bp

Exon count: 29