嘧啶5'-核苷酸酶缺乏的人红细胞的动力学和电泳研究。
Kinetic and electrophoretic studies of human erythrocytes deficient in pyrimidine 5'-nucleotidase.
作者信息
Shinohara K, Tanaka K R
出版信息
Hum Genet. 1979 Sep 2;51(1):107-11. doi: 10.1007/BF00278299.
PMID:40868
Abstract
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.
摘要
对一名患有遗传性嘧啶5'-核苷酸酶缺乏症患者的突变酶进行了生化分析。该酶通过DEAE-葡聚糖进行部分纯化，并通过超滤进行浓缩，对底物单磷酸尿苷具有较高的米氏常数（Km）。底物单磷酸胞苷的利用正常，但单磷酸腺苷的利用大幅增加。该酶对热稳定；最适pH为酸性。该酶的电泳显示出一条非常微弱、比正常条带迁移速度慢的条带。
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