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SLC12A1 / NKCC2
solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC12A1 / NKCC2 is 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.
| Gene Name: | solute carrier family 12 (sodium/potassium/chloride transporter), member 1 |
| Family/Subfamily: | Transporter , Cation:chloride symporter |
| Synonyms: | SLC12A1, BSC1, MBSC1, Na-K-2Cl cotransporter, NKCC2A variant A, RBSC, NKCC2 |
| Target Sequences: | NM_000338 NP_000329.2 Q13621 |
Publications (2)
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