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Highest antigen sequence indentity to the following orthologs: Mouse (55%), Rat (55%).
This recombinant protein control fragment may be used for blocking experiments with the corresponding antibody, PA5-59347. 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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Ellis van Creveld syndrome 2; Ellis-van Creveld syndrome protein 2; EVC2; Limbin
基因别名: EVC2; LBN; WAD
UniProt ID: (Human) Q86UK5
Entrez Gene ID: (Human) 132884