Kinetic studies of normal and variant hypoxanthine phosphoribosyltransferases in intact fibroblasts.
1982
T Page, and
B Bakay, and
W L Nyhan
UI
MeSH Term
Description
Entries
D007041
Hypoxanthine Phosphoribosyltransferase
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.