Title: MULTIPLE MOLECULAR FORMS OF THE PURINE PHOSPHORIBOSYL TRANSFERASES
Abstract: ABSTRACT. In man hypoxanthine guanine phosphoribosyl transferase catalyzes the conversion of hypoxanthine and guanine to their respective nucleotides, inosinic acid and guanylic acid. Adenine phosphoribosyl transferase catalyzes the conversion of adenine to adenylic acid. A considerable degree of genetically determined heterogeneity has been demonstrated in the case of HGPRT. An electrophoretic method has been developed for HGPRT and APRT which depends for detection on the quantitative precipitation of a labeled nucleotide reaction product by lanthanum. In this system variants have been detected with faster and slower anodal migration than normal. So far, in each instance where a variant enzyme has been recognized, there has been an associated clinical disease. These observations provide an important example of the relationship between altered molecular form of an enzyme and altered physiological function.
Publication Year: 1975
Publication Date: 1975-01-01
Language: en
Type: book-chapter
Indexed In: ['crossref']
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Cited By Count: 2
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