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 tubules in renal cortex.,
Cell membrane ; Multi-pass membrane protein . Apical cell membrane ; Multi-pass membrane protein .
Detected in kidney (at protein level). Detected in fetal and adult kidney. Detected in epithelial cells of proximal tubules in renal cortex.
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