SLC12A1 Antibody – Goat Polyclonal

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]

NKCC2: Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the regulation of ionic balance and cell volume. Kidney specific. Activated by WNK3. Belongs to the SLC12A transporter family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Transporter, SLC family; Transporter; Membrane protein, integral; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 15q15-q21.1

Cellular Component: membrane; apical plasma membrane; integral to membrane; plasma membrane

Molecular Function: sodium:potassium:chloride symporter activity

Biological Process: transport; sodium ion transport; ion transport; chloride transport; excretion; kidney development; transmembrane transport; potassium ion transport; chemical homeostasis

Disease: Bartter Syndrome, Antenatal, Type 1