dystrophia myotonica containing WD repeat motif: Proteins and Enzymes

The gene that codes for DMWD (dystrophia myotonica WD-repeat containing protein) is located in the myotonic dystrophy (DM1) gene cluster on 19q. Mutations in the DM1 region affect DMPK (myotonic dystrophy protein kinase), a myosin kinase expressed in skeletal muscle, and are the cause of myotonic dystrophy, a form of muscular dystrophy characterized by wasting of the muscles and myotonia. DMWD is expressed ubiquitously and is most abundant in the testes and brain. Studies concerning its abundance and sub-cellular localization in brain tissue suggest that it may have a role in some of the mental symptoms associated with myotonic dystrophy. Alternate names for DMWD include DMR-N9, and DM9.