SLC22A12

  • OMIM: 607 096
  • UniProt: Q96S37
  • MGI: 1195269

The urate exchanger 1 ( URAT1 ) encoded by the gene SLC22A12, is a uric acid - transport protein in the kidneys of animals that regulates the levels of uric acid in the blood. URAT1 is the target of medications that lower uric acid levels in the blood by inhibiting uric acid reabsorption in the kidney ( uricosuric ).

URAT1 belongs to the superfamily of transport proteins for organic anions ( Organic Anion Transporter, abbreviated as OCT) and consists of 555 amino acids with 12 transmembrane domains and intracellular amino and Carboxl -terminus. URAT1 is predominantly expressed in the apical membrane of proximal tubule cells and transports uric acid in exchange for organic anions from the primary urine in the tubule cells. At the basolateral membrane uric acid is transported by the organic anion transporters OAT1 and OAT3 in the capillaries. URAT1 could be detected in the cell membrane of vascular smooth muscle cells.

People with a genetic defect in SLC22A12 suffer from idiopathic renal hypouricemia. In this disease, the uric acid levels are decreased in the blood. The excretion of uric acid in urine is increased, it leads to deposition of uric acid crystals in the kidney. When exercising strenuously, may be caused by the increased formation of uric acid in the muscle to acute renal failure. Idiopathic renal hypouricemia, is a rare disease. The prevalence in most populations at 0.12 %, while the Japanese and Iraqi Jews the disease is more common.

Swell

  • Transporter (membrane protein)
  • Nephrology
Protein isoform Human Genome Organisation Mouse Genome Informatics Major facilitator superfamily Transportprotein Smooth muscle tissue
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