Rabbit polyclonal antibody to DMPK (R30)

Myotonic dystrophy protein kinase (DMPK) is a ulti~domain protein kinase found in muscle that is activated in response to G protein second messengers and proteolysis. DMPK is implicated in myotonic muscular dystrophy (DM), an autosomal dominant~inherited disorder that predominately affects skeletal and cardiac muscle and causes defects in cardiac conduction. DM arises through expansion of CTG repeats in the 3’~UTR of the DMPK gene. Mutant DMPK transcripts with an extended region of CUG repeats are retained in the nucleus. These transcripts also influence the expression of the DM locus~associated homeodomain protein (DMAHP)/SIX5, to mediate in part the DM phenotype. Other substrates for DMPK include myogenin, Ltype calcium channels, and Phospholemman (PLM).