Aliases for SLC12A1 Gene
- Solute Carrier Family 12 Member 1 2 3
- Solute Carrier Family 12 (Sodium/Potassium/Chloride Transporter), Member 1 2 3 5
- Bumetanide-Sensitive Sodium-(Potassium)-Chloride Cotransporter 2 3 4
- Kidney-Specific Na-K-Cl Symporter 3 4
- NKCC2 3 4
- Solute Carrier Family 12 (Sodium/Potassium/Chloride Transporters), Member 1 3
- Na-K-2Cl Cotransporter 3
- NKCC2A Variant A 3
- BSC1 3
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 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 Diuretics Pathway, Pharmacodynamics. 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 for SLC12A1 Gene
Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the regulation of ionic balance and cell volume.
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.