XDH: Key enzyme in purine degradation. Catalyzes the oxidation of hypoxanthine to xanthine. Catalyzes the oxidation of xanthine to uric acid. Contributes to the generation of reactive oxygen species. Has also low oxidase activity towards aldehydes (in vitro). Defects in XDH are the cause of xanthinuria type 1 (XU1). Xanthinuria is characterized by excretion of very large amounts of xanthine in the urine and a tendency to form xanthine stones. Uric acid is strikingly diminished in serum and urine. XU1 is due to isolated xanthine dehydrogenase. XU1 patients can metabolize allopurinol. Belongs to the xanthine dehydrogenase family.
Protein type: Secondary Metabolites Metabolism - caffeine; EC 1.17.3.2; Xenobiotic Metabolism - drug metabolism - other enzymes; EC 1.17.1.4; Nucleotide Metabolism - purine; Oxidoreductase
Chromosomal Location of Human Ortholog: 2p23.1
Cellular Component: cytosol; extracellular space; peroxisome; sarcoplasmic reticulum
Molecular Function: 2 iron, 2 sulfur cluster binding; electron carrier activity; FAD binding; iron ion binding; molybdopterin cofactor binding; oxidoreductase activity, acting on CH-OH group of donors; oxidoreductase activity, acting on the aldehyde or oxo group of donors; protein homodimerization activity; xanthine dehydrogenase activity; xanthine oxidase activity
Biological Process: caspase activation; lactation; negative regulation of endothelial cell differentiation; negative regulation of endothelial cell proliferation; negative regulation of protein amino acid phosphorylation; negative regulation of protein kinase B signaling cascade; nucleobase, nucleoside and nucleotide metabolic process; purine base metabolic process; purine nucleotide catabolic process; xanthine catabolic process
Disease: Xanthinuria, Type I
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