TMEM16F与相关疾病的研究进展

被引:0
作者
王婵娟
张捷
乔蕊
机构
[1] 北京大学第三医院检验科
关键词
跨膜蛋白16F; 离子通道; 磷脂翻转活性;
D O I
暂无
中图分类号
R363 [病理生理学];
学科分类号
摘要
跨膜蛋白16F(TMEM16F)又称Anoctamin(ANO)6,是在多种细胞中表达的跨膜蛋白Anoctamin家族中的一员。目前发现的TMEM16F的主要功能有:(1)钙离子(Ca2+)依赖的氯离子(Cl-)通道,参与细胞容量调节;(2)Ca2+调节的非选择性阳离子通道;(3)Ca2+依赖的磷脂翻转活性,参与凝血、细胞凋亡和骨质钙化等多个生理过程。所以在以上功能的基础上,TMEM16F基因的突变与一种罕见的遗传出血性疾病——Scott综合征密切相关。同时,TMEM16F的缺陷还会导致骨矿化障碍和细胞容量调节障碍等。文章对TMEM16F的结构及功能进行了综述,旨在阐明TMEM16F在相关疾病的发病机制、诊断和治疗方面的重要作用。
引用
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页码:831 / 836
页数:6
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