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SLC22A12, also known as urate transporter 1 (URAT1), is a member of the organic cation/anion/zwitterion transporter family. This transporter is present on the epithelial cells of proximal tubules in the renal cortex and mediates urate uptake. Gene mutations or functional defects of URAT1 have been identified in patients with renal hypouricemia, which is characterized by low serum urate levels. Disorders associated with this condition include uric acid urolithiasis; hematuria; hypercalcemia; or occasionally, exercise-induced acute renal failure.
