title: Structural features of the phosphoribosyltransferases and their relationship to the human deficiency disorders of purine and pyrimidine metabolism.
abstract: Similarities in the physical and chemical properties of the phosphoribosyltransferase family of enzymes suggest that they may share common structural features as observed in other functionally related proteins. The unusually high incidence of structural gene mutations of these enzymes in man are associated with several metabolic diseases of purine and pyrimidine metabolism. It is proposed that these disorders are the consequence of structural mutations to an architectural domain common to all of the phosphoribosyltransferases.
mesh_terms: D001276:ATP Phosphoribosyltransferase / Q000378:metabolism; D000582:Amidophosphoribosyltransferase / Q000378:metabolism; D000818:Animals; D000877:Anthranilate Phosphoribosyltransferase / Q000378:metabolism; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000378:metabolism; D007700:Kinetics; D054409:Nicotinamide Phosphoribosyltransferase; D009539:Nicotinic Acids / Q000378:metabolism; D009962:Orotate Phosphoribosyltransferase / Q000378:metabolism; D010430:Pentosyltransferases / Q000172:deficiency / Q000378:metabolism*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000201:enzymology*; D014542:Uridine Monophosphate / Q000378:metabolism; D000098553:Nicotinate-Nucleotide Diphosphorylase (Carboxylating)
chemical_list: D009539:Nicotinic Acids; D014542:Uridine Monophosphate; D010430:Pentosyltransferases; D009962:Orotate Phosphoribosyltransferase; D054409:Nicotinamide Phosphoribosyltransferase; D000582:Amidophosphoribosyltransferase; D001276:ATP Phosphoribosyltransferase; D000877:Anthranilate Phosphoribosyltransferase; D000098553:Nicotinate-Nucleotide Diphosphorylase (Carboxylating); D007041:Hypoxanthine Phosphoribosyltransferase; C023269:uracil phosphoribosyltransferase; C021864:nicotinate phosphoribosyltransferase