MyBioSource.com's EVC2 Polyclonal Antibody is a Rabbit Polyclonal antibody. This antibody has been shown to work in applications such as: ELISA, and Immunohistochemistry. The EVC2 Polyclonal Antibody was generated using EVC2, and LBN as the antigen and it reacts with Human, Mouse, and Rat.
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