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：

---

支持纤毛病的基因和分子途径

运动和非运动（初级）纤毛是几乎无处不在的细胞器。纤毛功能障碍会导致称为纤毛病的疾病。报告的纤毛病数量（目前为 35）正在增加，已建立（187）和候选（241）纤毛病相关基因的数量也在增加。纤毛病相关蛋白和表型的表征提高了我们对纤毛功能的了解。特别是，研究纤毛病有助于我们了解纤毛相关基体在早期纤毛发生中发挥作用的分子机制，以及过渡区在纤毛门控中的功能，以及鞭毛内运输如何实现货物运输和信号传递。基础生物学和临床研究都在揭示新的纤毛病和涉及的纤毛蛋白。