铜的摄取转运与其相关基因疾病的讨论  

The Uptake and Transport of Copper and Its Related Genetic Diseases

作　　者：周文利[1] 彭琴琴[1] 陈寿 居学成 马龙[1] 郑超[1,2] 

机构地区：[1]海南师范大学热带生物资源协同创新中心,海南海口571158 [2]深圳市赛欣瑞科技创新中心,广东深圳518109

出　　处：《广东化工》2016年第12期97-100,共4页Guangdong Chemical Industry

基　　金：2015年海南省自然科学基金20152038

摘　　要：铜是人体必需微量元素,机体既可通过精确的调节使它在生物学反应中发挥有益的作用,又可防止这种元素对毒性自由基形成的促进效应。文章主要探讨铜的摄取代谢转运过程并讨论这种元素所导致的与铜代谢有关的人类遗传性疾病,包括Menkes综合征和Wilson病。这两个疾病的相关蛋白被认为是铜转运磷酸化ATP酶,以下介绍两种疾病的病因及一些临床症状和治疗手段。Copper is essential trace elements, the body can make it through precise regulation of the biological response play a useful role, to prevent such elements to promote the formation of toxic effects of free radicals. In the paper, the uptake of copper metabolism transit and discussed elements such as lead and copper metabolism of the human genetic diseases, including Menkes syndrome and Wilson disease. These two disease-related proteins are considered transit copper Phosphorylation of ATP, following on the two diseases and the cause of some of the clinical symptoms and treatment.

关 键 词：铜 转运 WILSON病 Menkes综合征 铜转运磷酸化ATP酶 

分 类 号：Q591.7[生物学—生物化学]