肝豆状核变性ATP7B基因突变的分子机制研究进展

摘要/Abstract

摘要： 肝豆状核变性,是位于13号染色体上的ATP7B基因突变导致的一种常染色体隐性遗传病。ATP7B基因突变可能会导致其编码的ATP7B蛋白(铜离子转运ATP酶β肽)结构改变及功能受损,使肝细胞的铜转运及代谢发生障碍,引起铜的异常沉积,进而出现病理表现。本文对ATP7B基因及其编码蛋白的结构功能、ATP7B基因突变的类型及其分布、突变对ATP7B蛋白结构和功能的影响进行了归纳梳理,为进一步分析WD致病的分子机制提供参考。

关键词: 肝豆状核变性, 基因突变, ATP7B基因, 结构域, 铜, 分子机制

黄元志, 张敏. 肝豆状核变性ATP7B基因突变的分子机制研究进展[J]. 肝脏, 2023, 28(7): 866-871.

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