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Hypoxanthine Phosphoribosyltransferase

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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.  /defic: consider also LESCH-NYHAN SYNDROME or GOUT; DF: note short X ref   
See Also Gout; Lesch-Nyhan Syndrome 		Other names IMP Pyrophosphorylase; Hypoxanthine-Guanine Phosphoribosyltransferase; HPRT; Guanine Phosphoribosyltransferase; HGPRT; Pyrophosphorylase, IMP; Phosphoribosyltransferase, Hypoxanthine-Guanine; Phosphoribosyltransferase, Hypoxanthine; Phosphoribosyltransferase, Guanine; Hypoxanthine Guanine Phosphoribosyltransferase; HPRTase
 
SubstanceCAS Registry & nameCategoriesSourceDrugs*
PRTFDC1 protein, human  EC 2.4.2.8   *Hypoxanthine Phosphoribosyltransferase. FEBS J. 2010 Dec;277(23):4920-30

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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