XDH
Function
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).
Involvement in disease
Xanthinuria 1
XAN1
A disorder 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. XAN1 is due to isolated xanthine dehydrogenase deficiency. Patients can metabolize allopurinol.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Subject to partial proteolysis; this alters the enzyme from the dehydrogenase form (D) to the oxidase form (O).
Contains sulfhydryl groups that are easily oxidized (in vitro); this alters the enzyme from the dehydrogenase form (D) to the oxidase form (O).
Sequence Similarities
Belongs to the xanthine dehydrogenase family.
Tissue Specificity
Detected in milk (at protein level).
Cellular localization
- Cytoplasm
- Peroxisome
- Secreted
Alternative names
XDHA, XDH, Xanthine dehydrogenase/oxidase