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].
Function:
Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the regulation of ionic balance and cell volume.
Subcellular Location:
Membrane.
Tissue Specificity:
Kidney specific.
DISEASE:
Defects in SLC12A1 are the cause of Bartter syndrome type 1 (BS1) [MIM:601678]. BS refers to a group of autosomal recessive disorders characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BS1 is a life-threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark of BS1 is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia.
Similarity:
Belongs to the SLC12A transporter family.
SWISS:
Q13621
Gene ID:
6557
Database links:
Entrez Gene: 478292 Dog
Entrez Gene: 6557 Human
Entrez Gene: 20495 Mouse
Entrez Gene: 100328575 Rabbit
Entrez Gene: 25065 Rat
Omim: 600839 Human
SwissProt: Q13621 Human
SwissProt: P55014 Mouse
SwissProt: P55015 Rabbit
SwissProt: P55016 Rat
Unigene: 123116 Human
Unigene: 605373 Human
Unigene: 3914 Mouse
Unigene: 3214 Rabbit
Unigene: 14799 Rat
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