KIAA0586 (also known as TALPID3) is a coiled-coil domain protein essential for primary ciliogenesis and ciliary function 1. The protein localizes to basal bodies and pericentriolar locations, where it regulates centrosomal recruitment of RAB8A and targeting of centriole satellite proteins such as PCM1 2. KIAA0586 functions in early ciliogenesis by mediating centriolar satellite disappearance preceding ciliary vesicle formation and regulates cell polarity and centrosome organization 2. Biallelic KIAA0586 mutations cause Joubert syndrome (JBTS23), a neurodevelopmental ciliopathy characterized by hindbrain malformation and motor/cognitive impairments 2. The gene is also associated with overlapping phenotypes including short-rib thoracic dysplasia with polydactyly and hydrolethalus syndrome, expanding the ciliopathy spectrum 13. Disease variants impair both primary and motile cilia formation, leading to respiratory dysfunction, abnormal basal body organization, and ciliary clearance malfunction 4. Additionally, KIAA0586 regulates gastrointestinal and enteric nervous system development through hedgehog pathway signaling and extracellular matrix organization 5. Clinically, RNA-based therapeutics and readthrough agents show promise in correcting molecular defects associated with pathogenic KIAA0586 variants 6.