Product Type: Antibody
Descritpion: 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.
Research Areas: Cell Biology
Recommended Dilutions: IHC 1:50-1:200
Size: 200 uL
Gene Accession: NP_667338
Immunogen: Synthetic peptide of human EVC2
Formulation: PBS with 0.05% sodium azide, 50% glycerol, PH7.3
Purification: Affinity purification
Tissue Specificity/Positive Control: Found in the heart, placenta, lung, liver, skeletal muscle, kidney and pancreas.1 Publication
Cellular Localization: Membrane; Multi-pass membrane protein
Storage: Store at -20C. Avoid freeze / thaw cycles.