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Hypoxanthine Phosphoribosyltransferase
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Annotation: | /defic: consider also LESCH-NYHAN SYNDROME or GOUT; DF: note short X ref
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historyNote*: | 75; GUANINE PHOSPHORIBOSYLTRANSFERASE was GUANINE PHOSPHORIBOSYLTRANSFERASE (NM) 1978-91
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onlineNote*: | use HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE (NM) to search GUANINE PHOSPHORIBOSYLTRANSFERASE (NM) 1980-91
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publicMeSHNote*: | 75; GUANINE PHOSPHORIBOSYLTRANSFERASE was indexed under PENTOSYLTRANSFERASES 1978-91
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Scope note: | 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.
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activeMeSHYear*: | |
dateCreated*: | 1974-11-11X |
dateEstablished*: | 1975-09-01X |
dateRevised*: | 2003-07-09X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | ssbX |
recordOriginator*: | NLMX |
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Labels and equivalent concepts: | Hypoksantiinifosforibosyylitransferaasi (fi) XHypoxantinfosforibosyltransferas (sv) Hypoxanthine-Guanine Phosphoribosyltransferase (en, replaced) IMP Pyrophosphorylase (en, replaced) HPRTase (en, replaced) HPRT (en, replaced) HGPRT (en, replaced) Guanine Phosphoribosyltransferase (en, replaced) |
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