Source:http://linkedlifedata.com/resource/umls/id/C0020687
MSH: 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.,NCI: Cytoplasmic Hypoxanthine Phosphoribosyltransferases (Purine/Pyrimidine Phosphoribosyltransferase Family) catalyze 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. (NCI),NCI: Encoded by human HPRT1 Gene (Purine/Pyrimidine Phosphoribosyltransferase Family), 217-aa 24-kDa homotetrameric cytoplasmic Hypoxanthine Phosphoribosyltransferase 1 is involved in purine salvage. HPRT1 defects ca