产品名称
S12A3 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/6559
Human Swissprot No.
P55017
Human Swissprot Link
https://www.uniprot.org/uniprotkb/P55017/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/20497
Mouse Swissprot No.
P59158
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/P59158
Rat Gene Link
https://www.uniprot.org/uniprot/54300
Rat Swissprot Link
https://www.uniprot.org/uniprotkb/P55018
免疫原
Synthesized peptide derived from human S12A3 AA range: 947-997
特异性
This antibody detects endogenous levels of S12A3 at Human/Mouse/Rat
宿主
Polyclonal, Rabbit,IgG
背景介绍
This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause Gitelman syndrome, a disease similar to Bartter's syndrome, that is characterized by hypokalemic alkalosis combined with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. This cotransporter is the target for thiazide diuretics that are used for treating high blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008],
组织表达
Predominantly expressed in the kidney (at protein level) (PubMed:29993276, PubMed:8812482). Localizes to the distal convoluted tubules (at protein level)(PubMed:29993276). Not detected in normal aorta, but abundantly expressed in fatty streaks and advanced atherosclerotic lesions (at protein level) (PubMed:26099046).
细胞定位
Cell membrane ; Multi-pass membrane protein . Apical cell membrane ; Multi-pass membrane protein .
功能
disease:Defects in SLC12A3 are the cause of Gitelman syndrome (GS) [MIM:263800]. GS is an autosomal recessive disorder characterized by hypokalemic alkalosis in combination with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. Patients are often asymptomatic or present transient periods of muscular weakness and tetany, usually accompanied by abdominal pain, vomiting and fever. The phenotype is highly heterogeneous in terms of age at onset and severity. Cardinal features such as hypocalciuria and hypomagnesemia might also change during the life cycle of a given patient. GS has overlapping features with Bartter syndrome.,function:Electrically silent transporter system. Mediates sodium and chloride reabsorption.,similarity:Belongs to the SLC12A transporter family.,tissue specificity:Predominant in kidney.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
