Automated description from the Alliance of Genome Resources (Release 7.2.0)
Involved in smoothened signaling pathway. Located in ciliary membrane and nucleus. Part of plasma membrane protein complex. Is expressed in several structures, including heart; limb bud; oral region epithelium; skeleton; and tooth. 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).
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