功能： 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.,function:Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the regulation of ionic balance and cell volume.,similarity:Belongs to the SLC12A transporter family.,tissue specificity:Kidney specific.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Apical cell membrane ; Multi-pass membrane protein .
组织表达： Kidney; localizes to the thick ascending limbs (at protein level).
功能： 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.,function:Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the regulation of ionic balance and cell volume.,similarity:Belongs to the SLC12A transporter family.,tissue specificity:Kidney specific.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Apical cell membrane ; Multi-pass membrane protein .
组织表达： Kidney; localizes to the thick ascending limbs (at protein level).
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