hypoxanthine phosphoribosyltransferasemedical dictionary

<enzyme>

<cell biology> An enzyme that catalyses the conversion of 5-phosphoribosyl-1-pyrophosphate and hypoxanthine, guanine, or 6-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.

Chemical name: IMP:pyrophosphate phospho-D-ribosyltransferase

Registry number: EC 2.4.2.8

(12 Dec 1998)