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Dystrophin

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Definition

noun

A protein located mainly in the heart and skeletal muscles involved in strengthening of muscle fibers preventing from injury as muscle contract and relax.

Supplement

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

Synonyms:

BMD

CMD3B

DXS142

DXS164

DXS206

DXS230

DXS239

DXS268

DXS269

DXS270

DXS272

See also:

Protein

Cardiac muscle

Skeletal muscle