DMPK

Encoded by the DMPK gene, whose 3'-UTR CTG-repeat expansion causes myotonic dystrophy type 1, DMPK is a muscle-enriched member of the AGC kinase family. Its architecture pairs a Ser/Thr kinase domain with an autoinhibitory alpha-helix and a C-terminal coiled-coil, Rho-binding region that targets the kinase to endoplasmic reticulum and mitochondrial outer membranes. Reported functions include regulation of L-type calcium and sodium channel behavior in muscle, myoblast differentiation, and cytoskeletal dynamics through phosphorylation of the phosphatase subunit MYPT1 and intermediate-filament proteins such as desmin. In DM1, the expanded-repeat mRNA sequesters MBNL proteins while DMPK protein levels are altered in patient muscle, connecting this kinase directly to disease pathology. Recombinant DMPK supports myotonic dystrophy research and kinase-panel screening.