基因名称(Gene Name)
SLC22A12 OATL4 URAT1 UNQ6453/PRO34004
免疫原
Synthesized peptide derived from human S22AC AA range: 18-68
特异性
This antibody detects endogenous levels of S22AC at Human/Mouse/Rat
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse serum by affinity-chromatography using specific immunogen.
背景
The protein encoded by this gene is a member of the organic anion transporter (OAT) family, and it acts as a urate transporter to regulate urate levels in blood. This protein is an integral membrane protein primarily found in epithelial cells of the proximal tubule of the kidney. An elevated level of serum urate, hyperuricemia, is associated with increased incidences of gout, and mutations in this gene cause renal hypouricemia type 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013],
功能
disease:Defects in SLC22A12 are a cause of renal hypouricemia (RH) [MIM:220150]. Patients have low serum urate levels, due to defects in renal urate re-absorption and high urinary urate excretion. Patients often appear asymptomatic, but may be subject to exercise-induced acute renal failure (ARF), chronic renal dysfunction and uric acid urolithiasis.,function:Required for efficient urate re-absorption in the kidney. Regulates blood urate levels. Mediates saturable urate uptake by facilitating the exchange of urate against organic anions.,similarity:Belongs to the major facilitator superfamily. Organic cation transporter family.,subcellular location:Detected in the luminal membrane of the epithelium of renal proximal tubules.,subunit:Interacts with PDZK1.,tissue specificity:Detected in kidney (at protein level). Detected in fetal and adult kidney. Detected in epithelial cells of proximal
