Dystrophin

• OMIM: 300 377
• UniProt: P11532

Dystrophin is a protein found in vertebrates, which occurs in the muscle fiber membrane ( sarcolemma ). The protein was discovered in 1987 and is encoded in humans by the DMD gene on the X chromosome. DMD is the largest known human gene with 2.5 million base pairs, accounting for approximately 0.08 % of the genetic material from. Transcription of the gene takes only 16 hours. Mutations in DMD may lead to the Muscular Dystrophy Duchenne and Becker types Kiener, or dilated cardiomyopathy ( CMD3B ).

Dystrophin is one of the clinically most important actin -binding proteins. Structurally, it belongs to the spectrum Trina.

Function

Dystrophin acts intracellularly as a link between actin and beta- dystroglycan, a cell membrane -bridging protein, which in turn binds to the out-of- muscle cell alpha- dystroglycan. Alpha- dystroglycan is one of the most important receptors for proteins of the basement membrane, and thus the surrounding connective tissue cells.

On Dystroglykane dystrophin is also connected to the Sarkoglykankomplex, which is also located in the membrane. Collectively, these proteins are also called dystrophin - glycoprotein complex.

Pathology

Deficiency, complete absence or defects in the dystrophin - glycoprotein complex lead to various forms of progressive ( progressive ) muscular dystrophies that are characterized by a rupture of the muscle fiber membrane and the release of the muscle enzyme creatine kinase. These diseases are associated with progressive muscle weakness and wasting.