NCIt synonyms : Na-K-2Cl Cotransporter Gene; Solute Carrier Family 12 (Sodium/Potassium/Chloride Transporters), Member 1 Gene; CCC2; Bumetanide-Sensitive Cotransporter Type 1 Gene; BSC; NKCC2; BSC-1; Na-K-2Cl Cotransporter 2 Gene; BSC1; Solute Carrier Family 12 (Sodium/Potassium/Chloride Transporter), Member 1 Gene; Solute Carrier Family 12 Member 1 wt Allele; Sodium-Potassium-Chloride Transporter 2 Gene;
NCIt definition : Human SLC12A1 wild-type allele is located in the vicinity of 15q21.1 and is approximately
126 kb in length. This allele, which encodes solute carrier family 12 member 1 protein,
plays a role in ion transport and urine concentration in the kidney. Mutations in
the gene are associated with Bartter syndrome 1.;
OMIM relation
