Anti-SGCE Antibody Picoband®

Epsilon-sarcoglycan is a protein that in humans is encoded by the SGCE gene. This gene encodes the epsilon member of the sarcoglycan family. Sarcoglycans are transmembrane proteins that are components of the dystrophin-glycoprotein complex, which link the actin cytoskeleton to the extracellular matrix. Unlike other family members which are predominantly expressed in striated muscle, the epsilon sarcoglycan is more broadly expressed. Mutations in this gene are associated with myoclonus-dystonia syndrome. This gene is imprinted, with preferential expression from the paternal allele. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A pseudogene associated with this gene is located on chromosome 2.

Adaptive Immunity, Autoimmune, B Cells, Cytokines, Hematopoietic Progenitors, Immune System Diseases, Immunology, Innate Immunity, Lymphoid, Stem Cells, T Cells, T Lymphocytic Lineage, TNF Superfamily

1. Asmus, F., Salih, F., Hjermind, L. E., Ostergaard, K., Munz, M., Kuhn, A. A., Dupont, E., Kupsch, A., Gasser, T. Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene. Ann. Neurol. 58: 792-797, 2005. 2. Asmus, F., Zimprich, A., Tezenas du Montcel, S., Kabus, C., Deuschl, G., Kupsch, A., Ziemann, U., Castro, M., Kuhn, A. A., Strom, T. M., Vidailhet, M., Bhatia, K. P., Durr, A., Wood, N. W., Brice, A., Gasser, T. Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype. Ann. Neurol. 52: 489-492, 2002. 3. DeBerardinis, R. J., Conforto, D., Russell, K., Kaplan, J., Kollros, P. R., Zackai, E. H., Emanuel, B. S. Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on chromosome 7q21. Am. J. Med. Genet. 121A: 31-36, 2003.

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.