| IGD | idiopathic growth hormone deficiency; interglobal distance; isolated gonadotropin deficiency |
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| MCD | magnetic circular dichroism; mast-cell degranulation; mean cell diameter; mean of consecutive differ... |
| APRT | Adenine Phospho-Ribosyl-Transferase |
| FAD | Flavin Adenine Dinucleotide |
| NAD | Nicotinamide Adenine Dinucleotide |
| aminoglycoside phosphoribosyltransferase | <enzyme> Coded by neo-gene; involved in kanamycin resistance; no other information given on reaction 8/93 Registry number: EC 2.4.2.- Synonym: aminoglycosidephosphoribosyltransferase (26 Jun 1999) |
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| anthranilate phosphoribosyltransferase | <enzyme> An enzyme that catalyses the formation of n-5'-phosphoribosylanthranilic acid from anthranilate and phosphoribosylpyrophosphate, the first step in tryptophan synthesis in e. Coli. It exists in a complex with anthranilate synthase in bacteria. Chemical name: N-(5-Phospho-D-ribosyl)-anthranilate:pyrophosphate phospho-alpha-D-ribosyltransferase Registry number: EC 2.4.2.18 (12 Dec 1998) |
| ATP phosphoribosyltransferase | <enzyme> An enzyme that catalyses the first step of the pathway for histidine biosynthesis in salmonella typhimurium. ATP reacts reversibly with 5-phosphoribosyl-1-pyrophosphate to yield n-1-(5'-phosphoribosyl)-ATP and pyrophosphate. Chemical name: 1-(5-Phospho-D-ribosyl)-ATP:pyrophosphate phospho-alpha-D- ribosyltransferase Registry number: EC 2.4.2.17 (12 Dec 1998) |
| phosphoribosyltransferase | One of a group of enzymes (EC sub-subclass 2.4.2, pentosyltransferases) that transfers d-ribose 5-phosphate from 5-phospho-alpha-d-ribosyl pyrophosphate to a purine, pyrimidine, or pyridine acceptor, forming a 5'-nucleotide and inorganic pyrophosphate, or d-ribose from d-ribosyl phosphate to a base, forming a nucleoside, or similar pentose transfers; important in nucleotide biosynthesis. Specific phosphoribosyltransferases are preceded by the name of the acceptor base, e.g., uracil phosphoribosyltransferase (i.e., uracil + PRPP &dblarr; UMP + pyrophosphate). (05 Mar 2000) |
| purine phosphoribosyltransferase | <enzyme> Specific purine phosphoribosyltransferases are EC 2.4.2.7 and 2.4.2.8. Registry number: EC 2.4.2.- (26 Jun 1999) |
| pyrimidine phosphoribosyltransferase | <enzyme> Pyrimidine monophosphate and pyrophosphate gives pyrimidine and phosphoribosyl pyrophosphate; acts with uracil, orotic acid or fluorouracil Registry number: EC 2.4.2.- (26 Jun 1999) |
| hypoxanthine guanine 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) |
| 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) |
| nicotinamide phosphoribosyltransferase | <enzyme> Utilises nicotinamide, mg(2+), prpp and ATP Registry number: EC 2.4.2.12 Synonym: nmn pyrophosphorylase (26 Jun 1999) |
| 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) |
| abdominal muscle deficiency syndrome | <syndrome> Congenital absence (partial or complete) of abdominal muscles, in which the outline of the intestines is visible through the protruding abdominal wall; in males, genitourinary anomalies (urinary tract dilation and cryptorchidism) are also found; genetics unclear. (05 Mar 2000) |
| adult lactase deficiency | Onset of lactase deficiency, with resulting milk intolerance and malabsorption, in adulthood. Inherited forms may not be manifested until adulthood; any process that damages the intestinal lining cells can cause lactase deficiency in adults. (05 Mar 2000) |