Description

EVC2 and EVC (OMIM:604831) are single-pass type I transmembrane proteins, which function by transducing extracellular signals to the nucleus via the hedgehog (SHH, OMIM: 600725) signaling pathway (Dorn et al., 2012). This gene encodes a protein that functions in bone formation and skeletal development. Mutations EVC2 cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities.

External Information

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