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初级纤毛是突出于细胞表面的一种特殊细胞器,具有感受外界机械刺激和生物化学信号的功能.初级纤毛以微管为基础结构,外包被纤毛膜,内侧通过过渡区与细胞质相连接.纤毛内运输指纤毛转运蛋白在纤毛内携带信号分子进行的正向或逆向运输,是维持纤毛结构稳定和细胞信号传递的重要组成部分.纤毛转运蛋白的结构或功能改变,会导致人体多器官病变及功能紊乱.本文对纤毛转运蛋白的种类及其异常导致的硬组织相关疾病研究进展作一综述.“,”Primary cilia are the cellular organelles projecting from the cell surface to sense and transduce signaling. They contain microtubule-based (MT-based) internal structures , are covered with ciliary membrane and are connected with the cytoplasm by the transition zone. Intraflagellar transport(IFT), a bidirectional transport system, operated by IFT proteins and motors are indispensable for cilia structural stability and cell signaling. Those human diseases with primary cilia malfunction caused by the defect of IFT proteins are called ciliopathies. In this review, we describe the understanding of IFT proteins and its relationship to bone and tooth related ciliopathies.