Gout is a common disorder resulting from tissue deposition of monosodium urate crystals as a consequence of hyperuricemia. Patients with gout experience very painful attacks caused by precipitation of urate in joints, which triggers subsequent inflammation. Elevated serum uric acid concentration is a key risk factor for gout (summary from Matsuo et al., 2009 and Woodward et al., 2011).
Genetic Heterogeneity of Serum Uric Acid Concentration Quantitative Trait Loci
See also UAQTL2 (see 612076), conferred by variation in the SLC2A9 gene (606142) on chromosome 4p16; UAQTL4 (612671), conferred by variation in the SLC17A3 gene (611034) on chromosome 6p22; UAQTL5 (614746), associated with a SNP on chromosome 19q13; UAQTL6 (614747), associated with a SNP on chromosome 1; and UAQTL7 (see 245450), caused by mutation in the LDHD gene (607490) on chromosome 16q23. [from OMIM]
Also known as: ABC15, ABCP, BCRP, BCRP1, BMDP, CD338, CDw338, CDw388, EST157481, GOUT1, MRX, MXR, MXR-1, MXR1, UAQTL1, ABCG2
Summary: ATP binding cassette subfamily G member 2 (JR blood group)
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