山东大学耳鼻喉眼学报 ›› 2016, Vol. 30 ›› Issue (6): 81-84.doi: 10.6040/j.issn.1673-3770.0.2015.358

• 综述 • 上一篇    下一篇

Fascin-2基因功能的研究进展

杨琳琳1,2综述, 宋西成2,韩锋产1审校   

  1. 1.滨州医学院山东省医药卫生耳科遗传病重点实验室, 山东 烟台 264003;
    2.青岛大学医学院附属烟台毓璜顶医院耳鼻咽喉头颈外科, 山东 烟台 264000
  • 收稿日期:2015-08-22 出版日期:2016-12-16 发布日期:2016-12-16
  • 通讯作者: 宋西成. E-mail:songxicheng@126.com; 韩锋产. E-mail:1150590038@qq.com E-mail:996185902@qq.co
  • 作者简介:杨琳琳. E-mail:996185902@qq.co

Research progress of Fascin-2 gene function.

YANG Linlin1,2, SONG Xicheng2, HAN Fengchan1   

  1. 1. Key Laboratory for Genetic Hearing Disorders in Shandong, Binzhou Medical University, Yantai 264003, Shandong, China;2. Department of Otolaryngology &Head and Neck Surgery, Yantai Yuhuangding Hospital, Medical College of Qingdao University, Yantai 264000, Shandong, China
  • Received:2015-08-22 Online:2016-12-16 Published:2016-12-16

摘要: Fascin-2基因属于Fascins家族,其蛋白质编码产物是一组结构独特、进化保守的肌动蛋白交联蛋白,位于细胞膜皱襞、微棘突起及应力纤维,控制肌动蛋白细丝平行、有序、紧密排列与聚集。近年来研究发现,Fascin-2基因与连接以肌动蛋白为基本成分的纤毛质膜有密切联系,从而在感光器圆盘以及毛细胞静纤毛的形成中起重要作用,Fascin-2突变可引起原发性视网膜色素变性及渐进性的听力减退。就Fascin-2基因的研究进展进行阐述。

关键词: Fascin-2, 视网膜色素变性, 听力减退

Abstract: Fascin-2 gene, an actin cross-linking protein found in membrane ruffles, microspikes, and stress fibers, controls the parallel, sequential, and tight alignment and aggregation of actin filaments. Recent researches have found that Fascin-2 gene is associated with the cilia of plasma membrane, whose basic composition is actin; Fascin-2 gene plays an important role in the formation of photoreceptor disk and stereocilia; the mutation of Fascin-2 gene may cause progressive retinitis pigmentosa and hearing loss. This paper will elucidate the latest research progress on Fascin-2 gene.

Key words: Hearing loss, Retinitis pigmentosa, Fascin-2

中图分类号: 

  • R764.4
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