Background:
The large cytosolic protein was first identified in 1987 by Luis M. Kunkel after the 1986 discovery of the mutated gene that causes Duchenne Muscular Dystrophy(DMD) .
Structure and Function:
Dystrophin is a hydrophobic, rod-shaped protein that is found typically in muscles and is used for muscle movement It.exists as a part of a protein complex (alternativly called the costamere or the dystrophin-associated protein complex) that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane. This complex works to strengthen muscle fibers as well as allow then to relax and contract.
Dystrophin is the longest gene known on DNA level, covering 2.4 megabases (0.08% of the human genome). However, it does not encode the longest protein known in humans.
Role in Muscular Dystrophy:
Dystrophin deficiency is one of the main causes of muscular dystrophy. Normal skeletal muscle tissue contains small amounts of dystrophin, about 0.002%. However, absence or abnormal expression leads to the development of DMD and ultimately; myofiber necrosis. muscle weakness, and muscle degradation.