Automated description from the Alliance of Genome Resources (Release 3.1.1)
Involved in smoothened signaling pathway. Localizes to ciliary membrane; nucleus; and plasma membrane protein complex. Is expressed in several structures, including aorta; heart; limb bud; skeleton; and vibrissa. Used to study Ellis-Van Creveld syndrome. Human ortholog(s) of this gene implicated in Ellis-Van Creveld syndrome and Weyers acrofacial dysostosis. Orthologous to human EVC2 (EvC ciliary complex subunit 2).