基础医学与临床 ›› 2010, Vol. 30 ›› Issue (9): 999-1001.

• 短篇综述 • 上一篇    下一篇

ClC蛋白突变体及相关疾病研究进展

张海峰 柏志全 陈丽新 王立伟   

  1. 暨南大学医学院 暨南大学医学院
  • 收稿日期:2009-07-27 修回日期:2009-10-17 出版日期:2010-09-05 发布日期:2010-09-05
  • 通讯作者: 王立伟

Progress in ClC Mutant and its related Diseases

Hai-feng ZHANG, Zhi-quan BAI, Li-xin CHEN, Li-wei WANG   

  1. Medical College, Jinan University Medical College, Jinan University
  • Received:2009-07-27 Revised:2009-10-17 Online:2010-09-05 Published:2010-09-05
  • Contact: Li-wei WANG

摘要: ClC是一组介导氯离子跨膜转运的蛋白质,参与细胞多种生理及病理过程。基因突变形成的异常ClC蛋白影响离子通道门控特性从而扰乱氯离子正常跨膜转运,可导致先天性肌强直、先天性癫痫、Bartter 综合症、Dent's病、视网膜退化病及骨硬化病等多种疾病。

关键词: 氯离子, 氯离子通道, 基因突变

Abstract: ClC are chloride family proteins helping chloride ion transmembrane, which participated in a variety of physiological and pathological processes. Dysfunctional ClC protein induced by gene mutation could change the characters of channel gate and disturb chloride ion transmembrane, resulting in congenital myotonia, idiopathic epilepsy, Bartter's syndrome, Dent's disease, retina degeneration, osteopetrosis etc.

Key words: chloride ion, chloride ion channel, gene mutation