Automated description from the Alliance of Genome Resources (Release 5.2.2)
Acts upstream of or within several processes, including embryonic digit morphogenesis; heart development; 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 complex subunit 1).