Dystrophin gene is mapped on chromosome Xp21.2 containing 86 exons that span at about 2,300kb with 3026-3345 amino acids having ZZ domain which is responsible for Duchenne and Becker muscular dystrophies.
Dystrophin serves as an anchor that connects each muscle cells framework which plays an important role in signaling through interacting with proteins that send and receive chemical signals. It is expressed at higher level in neuronal cells than astroglial cells in adult brain in which overexpression of this protein prevents the growth of abnormal mechanical properties linked with dystrophic muscle.
Dystrophin gene mutation is implicated in cardiomyopathy which is typified by weakness and enlargement of cardiac muscle averting the heart from pumping of blood efficiently. This condition occurs due to the inactivity or little dystrophin in cardiac muscle cells that caused heart muscle spoiled or damaged which tend to contracts and relaxes repeatedly thus, eventually weakens and die over time.
Gene name: DMD
Protein name: Dystrophin