Concept information
Preferred term
Hypoxanthine Phosphoribosyltransferase
Type
-
Topical Descriptor
Broader concept
Entry terms
- Guanine Phosphoribosyltransferase
- HGPRT
- HPRT
- HPRTase
- Hypoxanthine Guanine Phosphoribosyltransferase
- Hypoxanthine-Guanine Phosphoribosyltransferase
- IMP Pyrophosphorylase
- Phosphoribosyltransferase, Guanine
- Phosphoribosyltransferase, Hypoxanthine-Guanine
- Pyrophosphorylase, IMP
Note
- /defic: consider also LESCH-NYHAN SYNDROME or GOUT
Scope note
- 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.
History note
- 75; GUANINE PHOSPHORIBOSYLTRANSFERASE was GUANINE PHOSPHORIBOSYLTRANSFERASE (NM) 1978-91
In other languages
URI
http://www.yso.fi/onto/mesh/D007041
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