Literature associating AHI1 and Joubert syndrome 4
Abelson helper integration site 1 protein homolog; Involved in vesicle trafficking and required for ciliogenesis, formation of primary non-motile cilium, and recruitment of RAB8A to the basal body of primary cilium. Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in neuronal differentiation; WD repeat domain containing
Synonyms: AHI1, AHI1p, hAHI1, E9PI51, E9PML3 ...