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.
Applications:Suitable for use in ELISA, Immunohistochemistry.
Other applications not tested.
Recommended Dilution:Immunohistochemistry: 1:50-1:200Optimal dilutions to be determined by the researcher.
Storage and Stability:May be stored at 4°C for short-term only.
Aliquot to avoid repeated freezing and thawing.
Store at -20°C.
Aliquots are stable for 12 months after receipt.
For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
仕様
Size：200ul
Host：rabbit
Source Antibody：human
Grade：Affinity Purified
Purity：Purified by immunoaffinity chromatography.
Form：Supplied as a liquid in PBS, pH 7.3, 0.05% sodium azide, 50% glycerol.
Specificity：Recognizes human EVC2.
Isotype：IgG
Calc Applications Abbrev：E IHC
Calc Crossreactivity：Hu
Immunogen：Synthetic peptide corresponding to human EVC2.
