PMID: 40868Sep 2, 1979

Kinetic and electrophoretic studies of human erythrocytes deficient in pyrimidine 5'-nucleotidase

Human Genetics
K Shinohara, K R Tanaka


The mutant enzyme of a patient with hereditary pyrimidine 5'-nucleotidase deficiency was analyzed biochemically. Partially purified by DEAE-Sephadex and concentrated by ultrafiltration, the enzyme had a high Km for the substrate uridine monophosphate. Utilization of the substrate cytidine monophosphate was normal, but utilization of adenosine monophosphate was greatly increased. The enzyme was stable to heat; the pH optimum was acidic. Electrophoresis of the enzyme revealed a very faint, slower than normal band.


Dec 8, 1980·Clinica Chimica Acta; International Journal of Clinical Chemistry·Y IshidaA Kibe
May 30, 1983·Clinica Chimica Acta; International Journal of Clinical Chemistry·A HironoS Miwa
Jan 1, 1984·Proceedings of the National Academy of Sciences of the United States of America·D E PagliaR A Brockway
Aug 5, 2000·Baillière's Best Practice & Research. Clinical Haematology·J L Vives i Corrons


Sep 1, 1977·Proceedings of the National Academy of Sciences of the United States of America·J D TorranceE Beutler
Aug 15, 1977·Clinica Chimica Acta; International Journal of Clinical Chemistry·R RosaJ Rosa
Oct 1, 1974·The Journal of Clinical Investigation·W N ValentineW S Adams

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