【摘要】 葡糖-6-磷酸脱氢酶(G6PD)缺乏症是人类最常见的遗传病之一。研究表明G6PD基因突变引起氨基酸置换可导致酶活性降低、酶动力学性质改变及不同的临床表型;结构分析提示这与蛋白质的底物结合域、辅酶结合域、二聚体界面和分子稳定性等多种因素有关。本文介绍了近年来国内外G6PD蛋白质纯化方法、酶动力学、结构与功能的相关性研究进展和存在的疑点,认识到G6PD结构与功能的关系仍为今后研究的热点和重点。更多还原

【Abstract】 Glucose-6-phosphate dehydrogenase(G6PD) deficiency is one of the most common genetic diseases.Studies on G6PD have demonstrated that an amino acid replacement resulting from gene mutation can cause enzyme activity decrease, changes of kinetic properties and different clinical phenotypes, which is concerned with substrate binding site, coenzyme binding site, dimer interface and molecular stability based on G6PD structure analysis.This review summarized some progress and questions in protein purification methods, enzyme kinetic properties, relationship between structure and function.Also, to clarify the correlation between structure and function in G6PD still remains hot spot and focal point in the future.更多还原