Dystrophin (DMD)

Dystrophin is encoded by Duchenne muscular dystrophy (DMD) gene, which is the largest known gene in humans, and DMD is one of the most severe forms of inherited muscular dystrophies. Dystrophin is a kind of scaffold protein that anchors the extracellular matrix to the cytoskeleton via F-actin, and it is the Component of the dystrophin-associated glycoprotein complex, which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Dystrophin has many isforms, which can be found in brain, kidney, lung, liver, muscle, testis and heart. Most tissues contain transcripts of multiple isoforms. Isoform 5 is only detected in heart and liver.