Motile and non-motile (primary) cilia are nearly ubiquitous cellular organelles. The dysfunction of cilia causes diseases known as ciliopathies. The number of reported ciliopathies (currently 35) is increasing, as is the number of established (187) and candidate (241) ciliopathy-associated genes. The characterization of ciliopathy-associated proteins and phenotypes has improved our knowledge of ciliary functions. In particular, investigating ciliopathies has helped us to understand the molecular mechanisms by which the cilium-associated basal body functions in early ciliogenesis, as well as how the transition zone functions in ciliary gating, and how intraflagellar transport enables cargo trafficking and signalling. Both basic biological and clinical studies are uncovering novel ciliopathies and the ciliary proteins involved. The assignment of these proteins to different ciliary structures, processes and ciliopathy subclasses (first order and second order) provides insights into how this versatile organelle is built, compartmentalized and functions in diverse ways that are essential for human health.

中文翻译：

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纤毛病的基因和分子途径

运动性和非运动性（原发性）纤毛几乎是普遍存在的细胞器。纤毛功能障碍会导致称为纤毛病的疾病。已报告的纤毛虫病数量（目前为35）正在增加，已建立的（187）和候选（241）纤毛病相关基因的数量也在增加。纤毛相关蛋白和表型的表征提高了我们对纤毛功能的认识。特别是，对纤毛病的研究帮助我们了解了纤毛相关的基体在纤毛早期形成中的分子机制，以及过渡区在纤毛门控中的功能，以及鞭毛内运输如何使货物运输和发出信号。基础生物学和临床研究都正在发现新的纤毛虫病和涉及的睫状蛋白。