Preferred Label : hypoxanthine phosphoribosyltransferase;
MeSH definition : An enzyme that catalyzes 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. EC 2.4.2.8.; 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.;
MeSH synonym : hgprt; phosphoribosyltransferase, guanine; guanine phosphoribosyltransferase; hypoxanthine guanine phosphoribosyltransferase; hprt; phosphoribosyltransferase, hypoxanthine-guanine; pyrophosphorylase, imp; phosphoribosyltransferase, hypoxanthine; imp pyrophosphorylase; hprtase; hypoxanthine-guanine phosphoribosyltransferase;
MeSH CAS label : IMP:pyrophosphate phospho-D-ribosyltransferase;
MeSH Related Number : 9016-12-0 (CAS RN);
Registry Number MeSH : EC 2.4.2.8;
MeSH annotation : /defic: consider also LESCH-NYHAN SYNDROME or GOUT; DF: note short X ref; /defic: consider also LESCH-NYHAN SYNDROME or GOUT;
Wikipedia link : https://en.wikipedia.org/wiki/Hypoxanthine-guanine phosphoribosyltransferase;
Is substance : O;
UNII : EC 2.4.2.8;
Origin ID : D007041;
UMLS CUI : C0020687;
Allowable qualifiers
- Currated CISMeF NLP mapping
- Record concept(s)
- Related MeSH Supplementary Concept(s)
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- Semantic type(s)
- UMLS correspondences (same concept)
An enzyme that catalyzes 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. EC 2.4.2.8.
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.
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=79233
2010
false
true
false
France
gout, HPRT-Related
hypoxanthine phosphoribosyltransferase
scientific and technical information
gout
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