Specificity
This antibody recognises an epitope within the C-terminal (CT) region of human Desmin, a type III intermediate filament (IF), localized near the Z line in sacromeres of skeletal, smooth and cardiac muscle tissue. Desmin plays an essential role in the architecture of muscle cells, connecting the Z-disk to the subsarcolemmal cytoskeleton, and the contractile apparatus to the, mitochondria, cell nucleus and post-synaptic areas of motor endplates. Desmin is an early indicator for muscle tissue in embryogenesis, and a marker for tumours of myogenic origin. Mutations in the Desmin gene, are responsible for the neuromuscular disorder known as desmin-related cardio skeletal myopathy (CSM), characterized by skeletal muscle weakness.