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Descriptor English: Hypoxanthine Phosphoribosyltransferase
Descriptor Spanish: Hipoxantina Fosforribosiltransferasa
Descriptor hipoxantina fosforribosiltransferasa
Entry term(s) HPRT
IMP pirofosforilasa
guanina fosforribosiltransferasa
hipoxantina-guanina fosforribosiltransferasa
Scope note: Enzima que cataliza la conversión de 5-fosforribosil-1-pirofosfato e hipoxantina, guanina o MERCAPTOPURINA, en los 5'-mononucleótidos correspondientes y pirofosfato. La enzima es importante para la biosíntesis de la purinas, así como para ciertas funciones del sistema nervioso central. La ausencia completa de actividad enzimática se asocia al SÍNDROME DE LESCH-NYHAN, mientras que la deficiencia parcial provoca una hiperproducción de ácido úrico. EC 2.4.2.8.
Descriptor Portuguese: Hipoxantina Fosforribosiltransferase
Descriptor French: Hypoxanthine phosphoribosyltransferase
Entry term(s): Guanine Phosphoribosyltransferase
HGPRT
HPRT
HPRTase
Hypoxanthine Guanine Phosphoribosyltransferase
Hypoxanthine-Guanine Phosphoribosyltransferase
IMP Pyrophosphorylase
Phosphoribosyltransferase, Guanine
Phosphoribosyltransferase, Hypoxanthine
Phosphoribosyltransferase, Hypoxanthine-Guanine
Pyrophosphorylase, IMP
Tree number(s): D08.811.913.400.725.450
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D007041
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.
Annotation: /defic: consider also LESCH-NYHAN SYNDROME or GOUT; DF: note short X ref
Allowable Qualifiers: AD administration & dosage
AE adverse effects
AI antagonists & inhibitors
AN analysis
BI biosynthesis
BL blood
CF cerebrospinal fluid
CH chemistry
CL classification
CS chemical synthesis
DE drug effects
DF deficiency
EC economics
GE genetics
HI history
IM immunology
IP isolation & purification
ME metabolism
PD pharmacology
PH physiology
PK pharmacokinetics
PO poisoning
RE radiation effects
SD supply & distribution
ST standards
TO toxicity
TU therapeutic use
UL ultrastructure
UR urine
Registry Number: EC 2.4.2.8
CAS Type 1 Name: IMP:pyrophosphate phospho-D-ribosyltransferase
Previous Indexing: Pentosephosphates (1972-1974)
Pentosyltransferases (1972-1974)
Public MeSH Note: 75; GUANINE PHOSPHORIBOSYLTRANSFERASE was indexed under PENTOSYLTRANSFERASES 1978-91
Online Note: use HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE (NM) to search GUANINE PHOSPHORIBOSYLTRANSFERASE (NM) 1980-91
History Note: 75; GUANINE PHOSPHORIBOSYLTRANSFERASE was GUANINE PHOSPHORIBOSYLTRANSFERASE (NM) 1978-91
Related: Gout MeSH
Lesch-Nyhan Syndrome MeSH
DeCS ID: 7221
Unique ID: D007041
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1975/09/01
Date of Entry: 1974/11/11
Revision Date: 2017/07/13
Hypoxanthine Phosphoribosyltransferase - Preferred
Concept UI M0010952
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.
Preferred term Hypoxanthine Phosphoribosyltransferase
Entry term(s) Guanine Phosphoribosyltransferase
HGPRT
HPRT
HPRTase
Hypoxanthine Guanine Phosphoribosyltransferase
Hypoxanthine-Guanine Phosphoribosyltransferase
IMP Pyrophosphorylase
Phosphoribosyltransferase, Guanine
Phosphoribosyltransferase, Hypoxanthine
Phosphoribosyltransferase, Hypoxanthine-Guanine
Pyrophosphorylase, IMP



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