DMPK (Myotonin-protein Kinase, Myotonic Dystrophy Protein Kinase, MDPK, DM-Kinase, DMK, MT-PK, DM-kinase) (Biotin)

DMPK, a member of the Ser/Thr protein kinase family, may play a role in intracellular communication. Most DMPK isoforms are expressed in many tissues including heart, skeletal muscle, liver and brain, except for isoform 2 which is only found in the heart and skeletal muscle, and isoform 14 which is only found in the brain, with high levels in the striatum, cerebellar cortex and pons. The poly-Gln region upstream/downstream of the gene is highly polymorphic (5 to 27 repeats) in the normal population and is expanded up to 50-3000 or more repeats in DM patients. The repeat length usually increases...