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Highest antigen sequence indentity to the following orthologs: Mouse (79%), Rat (79%).
This recombinant protein control fragment may be used for blocking experiments with the corresponding antibody, PA5-61656. In IHC/ICC and WB experiments, we recommend a 100x molar excess of the protein fragment control based on the concentration and the molecular weight. Pre-incubate the antibody-protein control fragment mixture for 30 min at room temperature.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Ellis van Creveld syndrome 2; Ellis-van Creveld syndrome protein 2; EVC2; Limbin
Gene Aliases: EVC2; LBN; WAD
UniProt ID: (Human) Q86UK5
Entrez Gene ID: (Human) 132884
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