Immunofluorescence analysis of C2C12 cells using EVC2 antibody (green). Blue: DAPI fluorescent DNA dye.Cells are fixed in 4% paraformaldehyde at room temperature for 15 minutes.
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. [provided by RefSeq, Oct 2009]
Alternative Names
Ellis van Creveld syndrome 2 ellis-van Creveld syndrome protein 2
Immunofluorescence analysis of C2C12 cells using EVC2 antibody (green). Blue: DAPI fluorescent DNA dye.Cells are fixed in 4% paraformaldehyde at room temperature for 15 minutes.
Additional Information
Form
Liquid
Storage Instructions
Shipped at 4°C. Store at +4°C short term (1-2 weeks). Store at -20°C long term. Avoid freeze / thaw cycle.
Storage Buffer
Purified antibody in PBS with 0.05% PC300,40% Glycerol.