Solute Carrier Family 12 (Sodium/potassium/chloride Transporters), Member 1 Proteine (SLC12A1)

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.

• si:ch211-220f12.1 (si:ch211-220f12.1)
• solute carrier family 12 member 1 (SLC12A1)
• solute carrier family 12 member 1 (Slc12a1)
• solute carrier family 12, member 1 (Slc12a1)

• AI788571 Protein
• BSC1 Protein
• D630042G03Rik Protein
• DKFZp469A2020 Protein
• mBSC1 Protein
• Alle Synonyme
• Nkcc2 Protein
• SLC12A1 Protein
• urehr3 Protein

FERM domain-containing protein 4A , Na/K/Cl cotransporter , solute carrier family 12 (sodium/potassium/chloride transporters), member 1 , solute carrier family 12 member 1-like , NKCC2A variant A , Na-K-2Cl cotransporter , bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2 , kidney-specific Na-K-Cl symporter , solute carrier family 12 member 1 , Solute carrier family 12 member 1 (bumetanide-sensitive sodium-[potassium]-chloride cotransporter) , Solute carrier family 12, member 1 (bumetanide-sensitive sodium-[potassium]-chloride cotransporter) , apical Na(2Cl)K cotransporter , solute carrier family 12, member 1 , BSC1 , bumetanide-sensitive cotransporter type 1