Automated description from the Alliance of Genome Resources (Release 7.1.0)
Involved in endochondral bone growth and positive regulation of smoothened signaling pathway. Located in ciliary basal body and ciliary membrane. Part of plasma membrane protein complex. Is expressed in several structures, including aorta; heart; nose; skeleton; and vibrissa. Used to study Ellis-Van Creveld syndrome. Human ortholog(s) of this gene implicated in Ellis-Van Creveld syndrome; Weyers acrofacial dysostosis; and ventricular septal defect. Orthologous to human EVC (EvC ciliary complex subunit 1).