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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
- Dystrophin
- Dystrophin-associated protein complex
- Syntrophin
- Muscular dystrophy
- Left ventricular noncompaction
References[edit | edit source]
External links[edit | edit source]
| Dystrobrevin Resources | |
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Contributors: Prab R. Tumpati, MD
