The EVC2 gene encodes limbin, which is a component of the EvC complex. This protein is involved in the regulation of ciliary Hedgehog signaling and has a role in bone formation and skeletal development. Defects in EVC2 gene lead to the development of Ellis-van Creveld syndrome. It is not clear how EVC2 gene contribute to the development of this condition. However, recent research has shown that the gene is active in the embryonic and fetal stages and may plays an important role in the development of organs, such as the heart, kidneys, and lungs, apart from bones. Mutations in the EVC2 gene is also responsible for a milder condition called Weyers acrodental dysostosis.