4esr

Structural highlights

Disease

AHI1_HUMAN Joubert syndrome;Joubert syndrome with ocular defect. The disease is caused by mutations affecting the gene represented in this entry.

Function

AHI1_HUMAN 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.