The EVC2 Polyclonal Antibody from Bioss Inc. is a Rabbit Polyclonal antibody to EVC2. This antibody recognizes Homo Sapiens, and Human antigen. The EVC2 Polyclonal Antibody has been shown to work in the following applications: EIA, Immunoassay, ELISA, Immunocytochemistry, Immunofluorescence, Immunohistochemistry, Immunohistochemistry - fixed, Immunohistochemistry - frozen, and Western Blot.
Description
EVC2 is an integral membrane protein that plays a vital role in bone formation and skeletal development. Defects in EVC2 are a cause of Ellis-van Creveld syndrome (EVC), also known as chondroectodermal dysplasia. EVC is an autosomal recessive disorder characterized by the clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia and cardiac anomalies. Patients manifest short-limb dwarfism, short ribs, postaxial polydactyly and dysplastic nails and teeth. Congenital heart defects, most commonly an atrioventricular septal defect, are observed in 60% of affected individuals