Dystrophin

From Freepedia

Dystrophin is a protein, and a vital part of a protein complex which connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane. Its deficiency is one of the root causes of muscular dystrophy. It was first identified in 1987 by Louis M. Kunkel, after the 1986 discovery of the mutated gene that causes Duchenne muscular dystrophy (DMD).

Normal tissue contains small amounts of dystrophin (about 0.002% of total muscle protein), but its absence leads to both DMD and fibrosis, a condition of muscle hardening. A different mutation of the same gene causes defective dystrophin, leading to Becker's muscular dystrophy (BMD). Dystrophin is the longest gene known to date.

External link

• OMIM 300377