The SGCE gene has other symbols as “ESG” and “DYT11”. It is located at 7q21.3. As a member of the sarcoglycan family, it is a component of the dystrophin-glycoprotein complex (DGC). It provides the connections between the actin cytoskeleton and the extracellular matrix in cardiac and skeletal muscles (Esapa et al. 2007).
Mutations in the SGCE gene may lead to myoclonus-dystonia syndrome, an autosomal dominant disorder featured with bilateral myoclonic jerks in the arms and axial muscles (Gasser 1998). Patients with the disorder also often have psychiatric symptoms such as panic attacks and obsessive-compulsive behavior (Zimprich et al. 2001).
Esapa, C. T., Waite, A., Locke, M., Benson, M. A., Kraus, M., McIlhinney, R. A. J., Sillitoe, R. V., Beesley, P. W., Blake, D. J. SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA. Hum. Molec. Genet. 16: 327-342, 2007.
Gasser, T. Inherited myoclonus-dystonia syndrome. Adv. Neurol. 78: 325-334, 1998.
Zimprich, A., Grabowski, M., Asmus, F., Naumann, M., Berg, D., Bertram, M., Scheidtmann, K., Kern, P., Winkelmann, J., Muller-Myhsok, B., Riedel, L., Bauer, M., Muller, T., Castro, M., Meitinger, T., Strom, T. M., Gasser, T. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nature Genet. 29: 66-69, 2001.