TALPID3 (KIAA0586) is a centrosomal protein which has specific functions during centriole maturation during the formation of the centrosomal-dependent organelle, the cilia, as well as less well understood roles in the cytoskeleton and during cell polarisation. Cilia are an essential component of signal transduction during embryonic development and the loss of TALPID3 function in humans can cause both severe lethal and mild cilia-related developmental disorders known as 'ciliopathies' the most common being Joubert syndrome. TALPID3 related ciliopathies affect the development of multiple organ systems including the brain, skeleton, eyes, lungs and liver. The consequences of TALPID3 dysfunction outside of the cilia and the implications for human diseases are less well understood.

中文翻译：

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Joubert 综合征和相关纤毛病中的 TALPID3。

TALPID3 (KIAA0586) 是一种中心体蛋白，它在中心体依赖的细胞器纤毛形成过程中的中心粒成熟过程中具有特定的功能，并且在细胞骨架和细胞极化过程中的作用还不太清楚。纤毛是胚胎发育过程中信号转导的重要组成部分，人类 TALPID3 功能的丧失会导致严重的致命性和轻度纤毛相关发育障碍，称为“纤毛病”，最常见的是 Joubert 综合征。TALPID3 相关的纤毛病影响多个器官系统的发育，包括大脑、骨骼、眼睛、肺和肝脏。纤毛以外的 TALPID3 功能障碍的后果以及对人类疾病的影响尚不清楚。