Recombinant Human Solute carrier family 12 member 1 (SLC12A1), Truncated

Uniprot Id

Q13621

Target Species

Human

Target Name

SLC12A1

Target Full Name

Solute carrier family 12 member 1

Target Function

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.

Target Involvement

Bartter syndrome 1, antenatal (BARTS1)

Target Subcellular Location

Apical cell membrane; Multi-pass membrane protein.

Target Protein Families

SLC12A transporter family

Target Tissue Specificity

Kidney; localizes to the thick ascending limbs (at protein level).

Target Synonyms

BSC1; Bumetanide sensitive sodium 3; Bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2; Kidney specific Na K Cl symporter; Kidney-specific Na-K-Cl symporter; MGC48843; Na K 2Cl cotransporter; NKCC2; potassiumchloride cotransporter 2; S12A1_HUMAN; Slc12a1; sodium potassium chloride cotransporter 2; solute carrier family 12 (sodium/potassium/chloride transporters); Solute carrier family 12 member 1

Target Background

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.