Anti-DMPK Antibody Picoband® Biotin Conjugated

The protein encoded by this gene is a serine/threonine protein kinase that contains coiled-coil and C-terminal membrane association domains. In the embryonic mouse, it is found in cardiac and skeletal myocytes where it appears to play a role in myogenesis. In adults, the transcript is localized to several tissues including brain, heart, and skeletal and smooth muscle, and a function in cytoskeletal remodeling has been described. Transcripts with expanded CUG repeats in the 3' untranslated region mediate alternative splicing of several genes and sequester RNA binding proteins and RNA transcripts that contain CAG repeats, resulting in myotonic dystrophy, an autosomal dominant neuromuscular disorder. Alternative splicing results in multiple protein coding and non-coding transcript variants.

1. Amack, J. D., Mahadevan, M. S. The myotonic dystrophy expanded CUG repeat tract is necessary but not sufficient to disrupt C2C12 myoblast differentiation. Hum. Molec. Genet. 10: 1879-1887, 2001. 2. Boucher, C. A., King, S. K., Carey, N., Krahe, R., Winchester, C. L., Rahman, S., Creavin, T., Meghji, P., Bailey, M. E. S., Chartier, F. L., Brown, S. D., Siciliano, M. J., Johnson, K. J. A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG) n repeat. Hum. Molec. Genet. 4: 1919-1925, 1995. 3. Braida, C., Stefanatos, R. K. A., Adam, B., Mahajan, N., Smeets, H. J. M., Niel, F., Goizet, C., Arveiler, B., Koenig, M., Lagier-Tourenne, C., Mandel, J.-L., Faber, C. G., de Die-Smulders, C. E. M., Spaans, F., Monckton, D. G. Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients. Hum. Molec. Genet. 19: 1399-1412, 2010.