A molybdenum-containing hydroxylase (XDH, EC 126.96.36.199, 1333 aa) involved in the oxidative metabolism of purines. It can be converted to xanthine oxidase (XO; EC 188.8.131.52) by reversible sulphydryl oxidation or by irreversible proteolytic modification. XO-derived reactive oxygen species are thought to be mediators in the pathogenesis of cellular injury. Mutations in the XDH gene lead to xanthinuria type 1.
Subjects: Medicine and Health.