Electrophoretic and kinetic studies of human erythrocytes deficient in pyrimidine 5'-nucleotidase.
A new variant of hereditary hemolytic anemia due to erythrocyte pyrimidine 5'-nucleotidase deficiency was found in Japan. Biochemical parameters such as the Michaelis constant, thermostability, electrophoresis and pH curve were studied. The variant showed a high Michaelis constant for cytidine 5'-monophosphate, no thermolability, slower electrophoretic mobility and abnormal optimum pH. The results strongly suggest that the mechanism of this enzyme deficiency is due to a structural gene mutation.
D015720:5'-Nucleotidase; D000745:Anemia, Hemolytic, Congenital / Q000201:enzymology*; D004355:Drug Stability; D004912:Erythrocytes / Q000201:enzymology*; D005796:Genes; D014644:Genetic Variation; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007564:Japan; D007700:Kinetics; D009154:Mutation; D009708:Nucleotidases / Q000097:blood* / Q000172:deficiency / Q000235:genetics
D009708:Nucleotidases; D015720:5'-Nucleotidase