The EVC2 Antibody from MyBioSource.com is a Rabbit Polyclonal antibody to EVC2, and LBN. This antibody recognizes Human antigen. The EVC2 Antibody has been validated for the following applications: Immunohistochemistry, and Western Blot.
Description
This gene 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