The XDH gene provides instructions for making an enzyme called xanthine dehydrogenase. This enzyme is involved in the normal breakdown of purines, which are building blocks of DNA and its chemical cousin, RNA. Specifically, it carries out the final two steps in the process: the conversion of a molecule called hypoxanthine to another molecule called xanthine, and the conversion of xanthine to uric acid, a waste product that is normally excreted in urine and feces.
Xanthine dehydrogenase has been studied extensively because it can be involved in the production of molecules called superoxide radicals. Specifically, xanthine dehydrogenase is sometimes converted to another form called xanthine oxidase, which produces superoxide radicals. These molecules are byproducts of normal cell processes, and they must be broken down regularly to avoid damaging cells. Superoxide radicals are thought to play a role in many diseases, including heart disease and high blood pressure (hypertension).
Researchers suspect that xanthine dehydrogenase plays a role in milk production (lactation) in women. However, the enzyme’s role in lactation is unclear.
Other Names
xanthine dehydrogenase/oxidase; xanthine oxidoreductase; XO; XOR
Related Genetics Topics
Identifiers
- NCBI Gene: 7498
- OMIM: 607633
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
