DISEASES

Disease-gene associations mined from literature

Literature associating XDH and adenine phosphoribosyltransferase deficiency

XDH [ENSP00000368727]

Xanthine dehydrogenase/oxidase; 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).

Synonyms:  XDH,  P47989,  Q585T6,  P47989p,  hP47989 ...

Linkouts:  STRING  Pharos  UniProt  OMIM