Centrosomal protein TALPID3 (TALPID3)

Centrosomal protein TALPID3, encoded by the KIAA0586 gene, is a highly conserved, ubiquitously expressed protein essential for the formation of primary cilia in vertebrate cells[1][3][5]. It localizes to the basal body and adjacent centriole at the base of primary cilia, where it is critical for correct centrosome function, cell polarity, and the docking and formation of cilia[1][3][5]. TALPID3 is required for the transduction of Hedgehog signaling, intracellular trafficking, and microtubule dynamics which impact organ development and tissue patterning[1][3]. Loss-of-function mutations in KIAA0586 cause a range of severe ciliopathies, most notably Joubert syndrome (JBTS23)—a neurodevelopmental disorder with brain, kidney, and skeletal abnormalities—and short-rib thoracic dysplasia (SRTD14)[2][3][4]. TALPID3 has documented functional interactions with proteins such as PCM1, Cep120, CP110, Rab8, and Mib1, all involved in centrosomal structure and ciliogenesis[1][3]. Notably, TALPID3 has not been reported as a therapeutic drug target or used clinically as a biomarker[3][4][5].

Other names

KIAA0586JBTS23SRTD14protein TALPID3Talpid3