The EVC gene encodes Ellis-van Creveld syndrome protein, which is a component of EvC complex. This protein has a role in endochondral growth and skeletal development. It is also involved in the regulation of ciliary Hedgehog signaling.
Defects in the EVC gene lead to the development of Ellis-van Creveld syndrome. This autosomal recessive disease is characterized by the clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac anomalies. Mutations in the EVC gene is also responsible for a milder condition called Weyers acrodental dysostosis.