Ellis Van Creveld Syndrome Protein 2 (EVC2)

EVC2 encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, 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. Alternative splicing results in multiple transcript variants. A putative transmembrane domain, 2 coiled-coil domains, and 3 nuclear localization signals are conserved between the human, mouse, and bovine proteins.