Hypoxanthine Phosphoribosyltransferase

**Definition:** An enzyme that catalyzes the conversion of 5-phosphoribosyl-1-pyrophosphate and hypoxanthine, guanine, or MERCAPTOPURINE to the corresponding 5'-mononucleotides and pyrophosphate. The enzyme is important in purine biosynthesis as well as central nervous system functions. Complete lack of enzyme activity is associated with the LESCH-NYHAN SYNDROME, while partial deficiency results in overproduction of uric acid. EC 2.4.2.8.

**Tree numbers:** - D08.811.913.400.725.450

**Synonyms:** - Hypoxanthine-Guanine Phosphoribosyltransferase - IMP Pyrophosphorylase - Guanine Phosphoribosyltransferase - HPRT - HPRTase - HGPRT