SLC2A9 is a high-capacity urate transporter in humans by Caulfield Mark J, Munroe Patricia B, O'Neill Deb, Witkowska Kate, Charchar Fadi J, Doblado Manuel, Evans Sarah, Eyheramendy Susana, Onipinla Abiodun, Howard Philip, Shaw-Hawkins Sue, Dobson Richard J, Wallace Chris, Newhouse Stephen J, Brown Morris, Connell John M, Dominiczak Anna, Farrall Martin, Lathrop G Mark, Samani Nilesh J, Kumari Meena, Marmot Michael, Brunner Eric, Chambers John, Elliott Paul, Kooner Jaspal, Laan Maris, Org Elin, Veldre Gudrun, Viigimaa Margus, Cappuccio Francesco P, Ji Chen, Iacone Roberto, Strazzullo Pasquale, Moley Kelle H, Cheeseman Chris in PLoS medicine (2008). PubMed

Abstract

Serum uric acid levels in humans are influenced by diet, cellular breakdown, and renal elimination, and correlate with blood pressure, metabolic syndrome, diabetes, gout, and cardiovascular disease. Recent genome-wide association scans have found common genetic variants of SLC2A9 to be associated with increased serum urate level and gout. The SLC2A9 gene encodes a facilitative glucose transporter, and it has two splice variants that are highly expressed in the proximal nephron, a key site for urate handling in the kidney. We investigated whether SLC2A9 is a functional urate transporter that contributes to the longstanding association between urate and blood pressure in man.

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