Dystrophin

Dystrophin is the protein product of the Duchenne and Becker muscular dystrophy (DMD/BMD) gene with a relative molecular mass of 400 kD. Antibodies to dystrophin show that DMD individuals lack dystrophin in their muscle cells or that dystrophin is present at very low levels, whereas BMD individuals produce a protein with reduced abundance or abnormal size. This monoclonal antibody reacts with an epitope spanning the mid-rod domain between amino acids 1181 and 1388 of human dystrophin. Dystrophin analysis may be used to distinguish DMD and BMD from other neuromuscular abnormalities. This antibody stains skeletal, cardiac, and smooth muscle dystrophin from normal human membrane in tissue and some animals but muscle tissue from DMD/BMD individuals who have a gene deletion which removes the antibody binding site.