AHI1 (Abelson helper integration site 1) is a cilium-localized protein essential for ciliogenesis and primary cilium formation. It mediates vesicle trafficking and recruits RAB8A to the ciliary basal body, functioning as a component of the tectonic-like complex at the ciliary transition zone to regulate transmembrane protein diffusion 1. AHI1 also promotes classical Wnt signaling and neuronal differentiation, potentially influencing cerebellar development. Clinically, AHI1 mutations cause Joubert syndrome (JS), a genetically heterogeneous primary ciliopathy characterized by distinctive midbrain-hindbrain malformation (molar tooth sign) and variable multi-systemic involvement 23. AHI1 accounts for 8-11% of JS cases, particularly in Arab populations 1. Individuals with AHI1 pathogenic variants require close surveillance for retinal dystrophy, including Leber's congenital amaurosis and retinitis pigmentosa 24. Additional organ involvement may include renal dysfunction and neurological complications such as hypotonia, ataxia, developmental delay, and abnormal eye movements 1. As AHI1 is a frequently mutated gene in ciliopathies affecting cilia-dependent signaling, understanding its transcriptional regulation and functional mechanisms remains critical for developing targeted treatments for ciliary-associated kidney and retinal diseases 5.