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.