人类线粒体苹果酸酶变体：不同多态形式的特性

Human mitochondrial malic enzyme variants: properties of the different polymorphic forms.

Burchell A, Crosby A, Cohen P T

Ann Hum Genet. 1977 Jul;41(1):1-7. doi: 10.1111/j.1469-1809.1977.tb01956.x.

Abstract

The human mitochondrial malic enzyme polymorphism was found to exist in the Scottish population with similar allele frequencies to those reported previously for Caucasian populations. 2. The mitochondrial malic enzyme variants MEM1, MEM2-1 and MEM2 which form the polymorphism have been separated from the cytoplasmic malic enzyme and partially purified by DEAE Sephadex chromatography. 3. The properties of the three mitochondrial malic enzyme variants were examined. No differences were found between the variants in Km for NADP, Km for pyruvate, Mn2+ and Mg2+ activation, Ki for dicumarol, heat stability, pH or ionic strength optimum.

摘要

已发现人类线粒体苹果酸酶多态性存在于苏格兰人群中，其等位基因频率与先前报道的高加索人群相似。2. 构成该多态性的线粒体苹果酸酶变体MEM1、MEM2 - 1和MEM2已与细胞质苹果酸酶分离，并通过DEAE葡聚糖凝胶色谱法进行了部分纯化。3. 对三种线粒体苹果酸酶变体的性质进行了研究。在NADP的Km、丙酮酸的Km、Mn2 +和Mg2 +激活、双香豆素的Ki、热稳定性、最适pH或离子强度方面，各变体之间未发现差异。