Aliases for SLC12A1 Gene
External Ids for SLC12A1 Gene
Previous GeneCards Identifiers for SLC12A1 Gene
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]
GeneCards Summary for SLC12A1 Gene
SLC12A1 (Solute Carrier Family 12 Member 1) is a Protein Coding gene. Diseases associated with SLC12A1 include Bartter Syndrome, Type 1, Antenatal and Antenatal Bartter Syndrome. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Neuroscience. Gene Ontology (GO) annotations related to this gene include transporter activity and sodium:potassium:chloride symporter activity. An important paralog of this gene is SLC12A2.
UniProtKB/Swiss-Prot Summary for SLC12A1 Gene
Renal sodium, potassium and chloride ion cotransporter that mediates the transepithelial NaCl reabsorption in the thick ascending limb and plays an essential role in the urinary concentration and volume regulation. Electrically silent transporter system.
Na+/K+/Cl- Symporters (NKCC) are membrane-bound channels that play a major role in a variety of epithelial absorptive and secretory processes and a direct role in cell volume regulation and possibly in cell cycle regulation. There are two NKCC isoforms: NKCC1 and NKCC2.