Anti-SELENON Antibody Picoband®

This gene encodes a glycoprotein that is localized in the endoplasmic reticulum. It plays an important role in cell protection against oxidative stress, and in the regulation of redox-related calcium homeostasis. Mutations in this gene are associated with early onset muscle disorders, referred to as SEPN1-related myopathy. SEPN1-related myopathy consists of 4 autosomal recessive disorders, originally thought to be separate entities: rigid spine muscular dystrophy (RSMD1), the classical form of multiminicore disease, desmin related myopathy with Mallory-body like inclusions, and congenital fiber-type disproportion (CFTD) . This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec) . Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. A second stop-codon redefinition element (SRE) adjacent to the UGA codon has been identified in this gene (PMID:15791204) . SRE is a phylogenetically conserved stem-loop structure that stimulates readthrough at the UGA codon, and augments the Sec insertion efficiency by SECIS. Alternatively spliced transcript variants have been found for this gene.

Could induce apoptosis in a BH3 domain-dependent manner. The interaction network of Bcl-2 family members may play a key role in modulation RTL10/BOP intrinsic apoptotic signaling activity.

1. Bouman, K., Gubbels, M., van den Heuvel, F. M. A., Groothuis, J. T., Erasmus, C. E., Nijveldt, R., Udink Ten Cate, F. E. A., Voermans, N. C. Cardiac involvement in two rare neuromuscular diseases: LAMA2-related muscular dystrophy and SELENON-related myopathy. Neuromusc. Disord. 32: 635-642, 2022. 2. Castets, P., Bertrand, A. T., Beuvin, M., Ferry, A., Le Grand, F., Castets, M., Chazot, G., Rederstorff, M., Krol, A., Lescure, A., Romero, N. B., Guicheney, P., Allamand, V. Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency. Hum. Molec. Genet. 20: 694-704, 2011. 3. Clarke, N. F., Kidson, W., Quijano-Roy, S., Estournet, B., Ferreiro, A., Guicheney, P., Manson, J. I., Kornberg, A. J., Shield, L. K., North, K. N. SEPN1: associated with congenital fiber-type disproportion and insulin resistance. Ann. Neurol. 59: 546-552, 2006.

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.