Disease-gene associations mined from literature

AHI1 disease associations

AHI1 [ENSP00000356774]

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 ...

Linkouts:  STRING  Pharos  UniProt