DISEASES

Disease-gene associations mined from literature

Literature on AHI1

AHI1 [ENSP00000265602]

Jouberin; 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. As a positive modulator of classical Wnt signaling, may play a crucial role in ciliary signaling during cerebellum embryonic development .

Synonyms:  AHI1,  AHI1p,  hAHI1,  E9PI51,  E9PML3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM