DMWD is a 674 amino acid protein containing five WD repeats. DMWD may play a role in the development of mental symptoms in severe cases of myotonic dystrophy, a chronic multisystemic disease characterized by wasting of the muscles, heart conduction defects, cataracts, endocrine changes and myotonia. The DMWD gene is located upstream of the DMPK gene and is prominently expressed in tissues affected in myotonic dystrophy patients. DMWD may also contribute to regulation in meiosis. DMWD is expressed in kidney and spleen, with strongest expression in brain, liver and testis. The gene encoding DMWD maps to human chromosome 19q13.32 and mouse chromosome 7 A3.
Synonyms: dystrophia myotonica containing WD repeat mot,D19S593E, DM 9, DM9, DMR N9, DMR N9 protein, DMRN 9, DMRN9, DMWD, DMWD_HUMAN, Dystrophia myotonica containing WD repeat mot, Dystrophia myotonica containing WD repeat mot protein, Dystrophia myotonica WD repeat containing protein, Dystrophia myotonica WD repeat-containing protein, Dystrophia myotonica-containing WD repeat mot protein, Gene59, Protein 59, Protein DMR-N9.