Anti-EVC2 Antibody Picoband® Biotin Conjugated

Involved in smoothened signaling pathway. Located in ciliary membrane and nucleus. Part of plasma membrane protein complex. Is expressed in several structures, including bone; heart; jaw; nose; and paranasal sinus. Used to study Ellis-Van Creveld syndrome. Human ortholog (s) of this gene implicated in Ellis-Van Creveld syndrome and Weyers acrofacial dysostosis. Orthologous to human EVC2 (EvC ciliary complex subunit 2) .

1. Adachi, N., Lieber, M. R. Bidirectional gene organization: a common architectural feature of the human genome. Cell 109: 807-809, 2002. 2. Caparros-Martin, J. A., Valencia, M., Reytor, E., Pacheco, M., Fernandez, M., Perez-Aytes, A., Gean, E., Lapunzina, P., Peters, H., Goodship, J. A., Ruiz-Perez, V. L. The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia. Hum. Molec. Genet. 22: 124-139, 2013. 3. D'Asdia, M. C., Torrente, I., Consoli, F., Ferese, R., Magliozzi, M., Bernardini, L., Guida, V., Digilio, M. C., Marino, B., Dallapicolla, B., De Luca, A. Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dysostosis. Europ. J. Med. Genet. 56: 80-87, 2013.