Syntrophin

Syntrophin is a family of intracellular peripheral membrane proteins that are known to bind to components of mechanosensitive sodium channels. They are part of the dystrophin-associated protein complex (DAPC) and play a crucial role in maintaining the stability and integrity of muscle fibers.

Structure

Syntrophins are composed of several domains, including a PDZ domain, a pleckstrin homology domain, and a coiled-coil domain. The PDZ domain is responsible for protein-protein interactions, while the pleckstrin homology domain is involved in phospholipid binding. The coiled-coil domain is thought to mediate the formation of multimeric complexes.

Function

Syntrophins are involved in the clustering of various proteins at the cell membrane, including ion channels and receptors. They are also thought to play a role in signal transduction and the regulation of gene expression. In muscle cells, syntrophins are involved in the stabilization of the dystrophin complex, which is crucial for muscle fiber integrity.

Clinical significance

Mutations in the genes encoding syntrophins can lead to various forms of muscular dystrophy, including Duchenne and Becker muscular dystrophy. These conditions are characterized by progressive muscle weakness and wasting.

See also

• Dystrophin
• Dystrophin-associated protein complex
• Muscular dystrophy

References

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