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.

Annotation

/defic: consider also LESCH-NYHAN SYNDROME or GOUT

DUI

D007041 MeSH Browser

CUI

M0010952

CAS

IMP:pyrophosphate phospho-D-ribosyltransferase

Previous indexing

Pentosephosphates (1972-1974); Pentosyltransferases (1972-1974)

History note

75; GUANINE PHOSPHORIBOSYLTRANSFERASE was GUANINE PHOSPHORIBOSYLTRANSFERASE (NM) 1978-91

Online note

use HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE (NM) to search GUANINE PHOSPHORIBOSYLTRANSFERASE (NM) 1980-91

Public note

75; GUANINE PHOSPHORIBOSYLTRANSFERASE was indexed under PENTOSYLTRANSFERASES 1978-91