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.
Also Known As:
Hypoxanthine Guanine Phosphoribosyltransferase; HPRT; HGPRT; HPRTase; Phosphoribosyltransferase, Guanine; Phosphoribosyltransferase, Hypoxanthine; Phosphoribosyltransferase, Hypoxanthine-Guanine; Pyrophosphorylase, IMP; Guanine Phosphoribosyltransferase; Hypoxanthine-Guanine Phosphoribosyltransferase; IMP Pyrophosphorylase; IMP:pyrophosphate phospho-D-ribosyltransferase