TMEM16F与相关疾病的研究进展

doi:10.3969/j.issn.1673-8640.2017.09.019

摘要/Abstract

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。

关键词: 跨膜蛋白16F, 离子通道, 磷脂翻转活性

Abstract:

Transmembrane protein 16F（TMEM16F）,also called Anoctamin（ANO）6,is a member of Anoctamin family,which is expressed in many types of cells. At present,the major functions of TMEM16F that have been demonstrated include：（1） Ca²⁺-dependent Cl^- channel,which takes part in the regulation of cell volume;（2） Ca²⁺-regulated nonselective cation channel;（3） Ca²⁺-dependent phospholipid scramblase,which takes part in coagulation,cell apoptosis,bone mineralization and so on. Hence,at the basis of these functions,TMEM16F gene mutation is closely related with Scott syndrome,a rare inherit bleeding disease. The defect of TMEM16F can cause the dysfunction of bone mineralization and cell volume regulation. This review focuses on the structure and functions of TMEM16F,so as to show the role of TMEM16F in the physiopathologic mechanism,diagnosis and treatment of related diseases.

Key words: Transmembrane protein 16F, Ion channel, Phospholipid scramblase

中图分类号:

R446.1

王婵娟, 张捷, 乔蕊. TMEM16F与相关疾病的研究进展[J]. 检验医学, 2017, 32(9): 831-836.

WANG Chanjuan, ZHANG Jie, QIAO Rui. Research progress on TMEM16F and related diseases[J]. Laboratory Medicine, 2017, 32(9): 831-836.

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