Hypoxanthine-guanine phosphoribosyltransferase

Hypoxanthine-guanine phosphoribosyltransferase (HPRT) is an enzyme (EC 2.4.2.8) in the purine metabolism. It converts inosine monophosphate to hypoxanthine, adenosine monophosphate to adenine and xanthine monophosphate to xanthine.

The enzyme primarily functions to salvage purines from degraded DNA to renewed purine synthesis.

Genetics

HPRT is located on the X chromosome (Xq26-q27.2).

Role in disease

Mutations in the gene lead to hyperuricemia:

• Lesch-Nyhan syndrome is due to HPRT mutations.
• Some mutations have been linked to gout, the risk of which is increased in hyperuricemia.

External link

• Purine metabolism