产品名称
S12A1 Rabbit Polyclonal Antibody
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/6557
Human Swissprot No.
Q13621
Human Swissprot Link
https://www.uniprot.org/uniprotkb/Q13621/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/20495
Mouse Swissprot No.
P55014
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/P55014
Rat Swissprot Link
https://www.uniprot.org/uniprotkb/P55016
免疫原
Synthesized peptide derived from human S12A1 AA range: 595-645
特异性
This antibody detects endogenous levels of S12A1 at Human/Mouse/Rat
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
组织表达
Kidney; localizes to the thick ascending limbs (at protein level).
细胞定位
Apical cell membrane ; Multi-pass membrane protein .
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.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
