SLC12A1, Official Symbol SLC12A1provided by HGNC Official Full Name solute carrier family 12 member 1provided by HGNC Primary source HGNC:HGNC:10910 See related Ensembl:ENSG00000074803 MIM:600839; AllianceGenome:HGNC:10910 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BSC; BSC1; CCC2; BSC-1; 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) See more Orthologs mouse all