Anti-C19orf61/SMG9 Antibody Picoband®

This gene encodes a regulatory subunit of the SMG1 complex, which plays a critical role in nonsense-mediated mRNA decay (NMD) . Binding of the encoded protein to the SMG1 complex kinase scaffold protein results in the inhibition of its kinase activity. Mutations in this gene cause a multiple congenital anomaly syndrome in human patients, characterized by brain malformation, congenital heart disease and other features.

1. Lecoquierre, F., Bonnevalle, A., Chadie, A., Gayet, C., Dumant-Forest, C., Renaux-Petel, M., Leca, J. B., Hazelzet, T., Brasseur-Daudruy, M., Louillet, F., Muraine, M., Coutant, S., Quenez, O., Boland, A., Deleuze, J. F., Frebourg, T., Goldenberg, A., Saugier-Veber, P., Guerrot, A. M., Nicolas, G. Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorder. Am. J. Med. Genet. 179A: 2257-2262, 2019. 2. Rahikkala, E., Urpa, L., Ghimire, B., Topa, H., Kurki, M. I., Koskela, M., Airavaara, M., Hamalainen, E., Pylkas, K., Korkko, J., Savolainen, H., Suoranta, A., Bertoli-Avella, A., Rolfs, A., Mattila, P., Daly, M., Palotie, A., Pietilainen, O., Moilanen, J., Kuismin, O. A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development. Europ. J. Hum. Genet. 30: 619-627, 2022. 3. Shaheen, R., Anazi, S., Ben-Omran, T., Seidahmed, M. Z., Caddle, L. B., Palmer, K., Ali, R., Alshidi, T., Hagos, S., Goodwin, L., Hashem, M., Wakil, S. M., Abouelhoda, M., Colak, D., Murray, S. A., Alkuraya, F. S. Mutations in SMG9, encoding an essential component of nonsense-mediated decay machinery, cause a multiple congenital anomaly syndrome in humans and mice. Am. J. Hum. Genet. 98: 643-652, 2016.

At -20°C for one year from date of receipt. After reconstitution, at 4°C for one month. It can also be aliquotted and stored frozen at -20°C for six months. Avoid repeated freezing and thawing.