hypoxanthine phosphoribosyltransferase

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;

Details

Origin ID

D007041;

UMLS CUI

C0020687;

Allowable qualifiers
- administration and dosage [MeSH Qualifier]
- adverse effects [MeSH Qualifier]
- analysis [MeSH Qualifier]
- antagonists and inhibitors [MeSH Qualifier]
- biosynthesis [MeSH Qualifier]
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemical synthesis [MeSH Qualifier]
- chemistry [MeSH Qualifier]
- classification [MeSH Qualifier]
- contraindications [MeSH Qualifier]
- deficiency [MeSH Qualifier]
- drug effects [MeSH Qualifier]
- economics [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- isolation and purification [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- pharmacokinetics [MeSH Qualifier]
- pharmacology [MeSH Qualifier]
- physiology [MeSH Qualifier]
- poisoning [MeSH Qualifier]
- radiation effects [MeSH Qualifier]
- standards [MeSH Qualifier]
- supply and distribution [MeSH Qualifier]
- therapeutic use [MeSH Qualifier]
- toxicity [MeSH Qualifier]
- ultrastructure [MeSH Qualifier]
- urine [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- HPRT1 wt Allele [NCIt concept]
- Hypoxanthine guanine phosphoribosyltransferase 1 [OMIM gene]
- Hypoxanthine-Guanine Phosphoribosyltransferase [NCIt concept]
- hypoxanthine phosphoribosyltransferase 1 [ORDO Gene]
- hypoxanthine phosphoribosyltransferase activity [GO term]
Record concept(s)
- hypoxanthine phosphoribosyltransferase [MeSH concept]
Related MeSH Supplementary Concept(s)
- PRTFDC1 protein, human [MeSH Supplementary Concept]
- gout, HPRT-Related [MeSH Supplementary Concept]
See also
- Lesch-Nyhan syndrome [MeSH Descriptor]
- gout [MeSH Descriptor]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]
UMLS correspondences (same concept)
- Hypoxanthine Phosphoribosyltransferase [NCIt concept]
- Hypoxanthine phosphoribosyltransferase [LOINC component]
- Hypoxanthine phosphoribosyltransferase (substance) [SNOMED CT concept]
- Hypoxanthine-Guanine Phosphoribosyltransferase [NCIt concept]
- hypoxanthine phosphoribosyltransferase [SNOMED Notion]

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