HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE

'Hypoxanthine-guanine phosphoribosyltransferase' ('HPRT') is an enzyme in purine metabolism.

Contents

Functions

Role in disease

See also

External link

Functions

It catalyzes the following reactions:

'Substrate'	'Product'	'Notes'
hypoxanthine	inosine monophosphate	-
guanine	guanine monophosphate	often renamed as HGPRT. Only performs this function in some species.
xanthine	xanthine monophosphate	Only certain HPRTs.

The enzyme primarily functions to salvage purines from degraded DNA to renewed purine synthesis. In this role, it acts as a catalyst in the reaction between guanine and phosphoribosyl pyrophosphate (PRPP) to form GMP.

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.

See also

★ Nucleotide salvage

External link

★ Purine metabolism at genome.jp

★