Dystrophia Myotonica Protein Kinase (DMPK)

Dystrophia myotonica protein kinase (DMPK) is a serine/threonine-specific protein kinase that plays a crucial role in muscle, heart, and brain cells. It is encoded by the DMPK gene and is most notable for its involvement in the pathogenesis of myotonic dystrophy type 1 (DM1). DMPK acts as a non-receptor serine/threonine protein kinase essential for maintaining skeletal muscle structure and function. It regulates intracellular communication and modulates the production/function of key structures inside muscle cells. DM1 results from an unstable CTG trinucleotide repeat expansion within the DMPK gene, leading to toxic RNA species that disrupt normal cellular function. Decreased expression or loss-of-function mutations can contribute directly to disease pathology.

Other names

Myotonic dystrophy protein kinaseMyotonin-protein kinase

Modulation of pathways affected by toxic RNA foci generated from mutant transcripts; Inhibition of myosin phosphatase