Description_x000D_ General description_x000D_ DMPK (dystrophia myotonica protein kinase) gene is localized to human chromosome 19q13.3, which codes for a Ser/Thr kinase. This gene is localized to myotonic dystrophy (DM) locus, and belongs to the myotonic dystrophy proteinkinase family. This gene is composed of 15 exons, and the mRNA is highly alternatively spliced. This gives rise to multiple isoforms of this protein, and they all have in common a leucine-rich domain in N-terminal, a serine/threonine kinase domain, a C-terminal protein kinase domain and a coiled-coil region._x000D_ Immunogen_x000D_ Myotonin-protein kinase recombinant protein epitope signature tag (PrEST)_x000D_ Application_x000D_ All Prestige Antibodies Powered by Atlas Antibodies are developed and validated by the Human Protein Atlas (HPA) project (www.proteinatlas.org)and as a result, are supported by the most extensive characterization in the industry._x000D_ The Human Protein Atlas project can be subdivided into three efforts: Human Tissue Atlas, Cancer Atlas, and Human Cell Atlas. The antibodies that have been generated in support of the Tissue and Cancer Atlas projects have been tested by immunohistochemistry against hundreds of normal and disease tissues and through the recent efforts of the Human Cell Atlas project, many have been characterized by immunofluorescence to map the human proteome not only at the tissue level but now at the subcellular level. These images and the collection of this vast data set can be viewed on the Human Protein Atlas (HPA) site by clicking on the Image Gallery link. To view these protocols and other useful information about Prestige Antibodies and the HPA, visit sigma.com/prestige._x000D_ Physical form_x000D_ Solution in phosphate-buffered saline, pH 7.2, containing 40% glycerol and 0.02% sodium azide_x000D_ Disclaimer_x000D_ Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals._x000D_ Legal Information_x000D_ Prestige Antibodies is a registered trademark of Sigma-Aldrich Co. LLC_x000D_ Biochem/physiol Actions_x000D_ Expansion of CTG repeats in the 3′ UTR (untranslated region) this gene leads to the disorder Myotonic dystrophy type 1 (DM1). Normally this gene contains 5-37 CTG repeats, whereas DM1 patients contain 50 to several thousand CTG repeats in the 3′UTR. In vitro studies show that adenosinetriphosphate facilitates the unwinding of CTG-duplex repeats by DDX6 (DEAD-box helicase 6) protein. Thus, DDX6 is capable of releasing and remodeling nuclear DMPK messenger ribonucleoprotein foci, which can reverse pathogenic alternative splicing. This protein leads to reorganization of actin cytoskeleton and removal of membrane organelles during differentiation of normal lens. However, in DM1 lenses it results in the retention of the intracellular membrane organelles._x000D_ Features and Benefits_x000D_ Prestige Antibodies® are highly characterized and extensively validated antibodies with the added benefit of all available characterization data for each target being accessible via the Human Protein Atlas portal linked just below the product name at the top of this page. The uniqueness and low cross-reactivity of the Prestige Antibodies® to other proteins are due to a thorough selection of antigen regions, affinity purification, and stringent selection. Prestige antigen controls are available for every corresponding Prestige Antibody and can be found in the linkage section._x000D_ Every Prestige Antibody is tested in the following ways:_x000D_ • IHC tissue array of 44 normal human tissues and 20 of the most common cancer type tissues._x000D_ • Protein array of 364 human recombinant protein fragments._x000D_ • Validated for multiple commonly used applications such as IHC (Immunohistochemistry), IF (Immunofluorescence), and WB (Western Blot)_x000D_ Linkage_x000D_ Corresponding Antigen APREST71376.