| hypoxanthine guanine phosphoribosyltransferase deficiency | A sex-linked inherited metabolic disorder; complete deficiency results in Lesch-Nyhan syndrome; incomplete deficiency is associated with acute gouty arthritis and renal stones. (05 Mar 2000) |
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| hypoxanthine-guanine-xanthine phosphoribosyltransferase | <enzyme> From tritrichomonas foetus; in contrast to EC 2.4.2.8, this enzyme also uses xanthine as substrate; mw 24 kD Registry number: EC 2.4.2.- Synonym: hgxprtase (26 Jun 1999) |
| hypoxanthine phosphoribosyltransferase | <enzyme> An enzyme that catalyses 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. Chemical name: IMP:pyrophosphate phospho-D-ribosyltransferase Registry number: EC 2.4.2.8 (12 Dec 1998) |
| nicotinatenucleotide-dimethylbenzimidazole phosphoribosyltransferase | <enzyme> Involved in the synthesis of adenosyl-cobalamin (coenzyme b12); amino acid sequence given in second source Registry number: EC 2.4.2.21 Synonym: nicotinate ribonucleotide benzimidazole phosphoribosyltransferase, trans-n-glycosidase, nicotinate-nucleotide-dimethylbenzimidazole phosphoribosyltransferase, cobu gene product, cobt protein, scobt protein, cobt gene product (26 Jun 1999) |
| orotate phosphoribosyltransferase | <enzyme> The enzyme catalyzing the formation of orotidine-5'-phosphoric acid (orotidylic acid) from orotic acid and 5-phosphoribosyl-1-pyrophosphate in the course of pyrimidine nucleotide biosynthesis. Chemical name: Orotidine-5'-phosphate:pyrophosphate phospho-alpha-D-ribosyltransferase Registry number: EC 2.4.2.10 (12 Dec 1998) |
| uracil phosphoribosyltransferase | See: phosphoribosyltransferase. (05 Mar 2000) |