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DeCS
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Descriptor English:
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Hypoxanthine Phosphoribosyltransferase
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Descriptor Spanish:
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Hipoxantina Fosforribosiltransferasa
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Descriptor Portuguese:
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Hipoxantina Fosforribosiltransferase
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Synonyms English:
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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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Tree Number:
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D08.811.913.400.725.450
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Definition English:
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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. |
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Indexing Annotation English:
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/defic: consider also LESCH-NYHAN SYNDROME or GOUT; DF: note short X ref
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See Related English:
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Gout
Lesch-Nyhan Syndrome
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History Note English:
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75; GUANINE PHOSPHORIBOSYLTRANSFERASE was GUANINE PHOSPHORIBOSYLTRANSFERASE (NM) 1978-91
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Allowable Qualifiers English:
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Record Number:
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7221
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Unique Identifier:
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D007041
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Occurrence in VHL:
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Similar:
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DeCS
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