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Recommended positive controls: A431, H1299, HeLa, HepG2.
Store product as a concentrated solution. Centrifuge briefly prior to opening the vial.
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.
⚠WARNING: This product can expose you to chemicals including mercury, which is known to the State of California to cause birth defects or other reproductive harm. For more information go to www.P65Warnings.ca.gov.
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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