EVC2 Antibody

Polyclonal Antibody

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.

Synthetic peptide of human EVC2

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.

Antigen affinity purification

Human

Polyclonal