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电压门控氯通道ClC蛋白突变体及相关疾病研究进展 被引量:1

ClC mutant and its related diseases
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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,从而扰乱氯离子的正常跨膜转运,可导致先天性肌强直、先天性癫痫、Bartter综合征、Dents病、视网膜退化病及骨硬化病等多种疾病。 ClC is chloride family proteins helping chloride ion transmembrane,which participated in a variety of physiological and pathological processes.Dysfunctional ClC protein induced by gene mutation may 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 and osteopetrosis etc.
机构地区 暨南大学医学院
出处 《基础医学与临床》 CSCD 北大核心 2010年第9期999-1001,共3页 Basic and Clinical Medicine
基金 国家自然科学基金(30771106) 广东省自然科学基金(7005974)
关键词 氯离子 氯离子通道 基因突变 chloride ion chloride ion channel gene mutation
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