Dystrobrevin

Dystrobrevin is a protein that in humans is encoded by the DTNA gene. Dystrobrevin is a component of the Dystrophin-associated protein complex (DAPC), which plays a crucial role in muscle function. Mutations in this gene can lead to different forms of muscular dystrophy.

Function

Dystrobrevin is a cytoplasmic component of the DAPC. It binds to syntrophin, a peripheral membrane protein, which in turn binds to dystrophin, a protein that connects the cytoskeleton to the extracellular matrix. This complex is thought to protect muscle fibers from injury.

Clinical significance

Mutations in the DTNA gene can lead to left ventricular noncompaction (LVNC), a rare form of cardiomyopathy. This condition is characterized by a thick, spongy layer in the left ventricle of the heart, which can lead to heart failure, arrhythmia, and thromboembolism.

See also

• Dystrophin
• Dystrophin-associated protein complex
• Syntrophin
• Muscular dystrophy
• Left ventricular noncompaction

References

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External links

• DTNA gene at NCBI
• DTNA gene at GHR