Cplane1 - ciliogenesis and planar polarity effector 1

Acts upstream of or within several processes, including animal organ development; embryonic digit morphogenesis; and protein localization to ciliary transition zone. Located in ciliary transition zone. Used to study Joubert syndrome 17. Human ortholog(s) of this gene implicated in Joubert syndrome 17 and Joubert syndrome with orofaciodigital defect. Orthologous to human CPLANE1 (ciliogenesis and planar polarity effector 1). [provided by Alliance of Genome Resources, Apr 2022]