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.
Year introduced: 1975
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Subheadings:
Tree Number(s): D08.811.913.400.725.450
MeSH Unique ID: D007041
Registry Number: EC 2.4.2.8
Entry Terms:
- Phosphoribosyltransferase, Hypoxanthine
- Hypoxanthine-Guanine Phosphoribosyltransferase
- Hypoxanthine Guanine Phosphoribosyltransferase
- Phosphoribosyltransferase, Hypoxanthine-Guanine
- IMP Pyrophosphorylase
- Pyrophosphorylase, IMP
- Guanine Phosphoribosyltransferase
- Phosphoribosyltransferase, Guanine
- HPRT
- HPRTase
- HGPRT
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