Synemin

Synemin is a protein that in humans is encoded by the SYNM gene. It is a type of intermediate filament (IF) protein, which are crucial components of the cellular cytoskeleton. Synemin is expressed in various types of muscle tissue, including cardiac muscle and skeletal muscle, and plays a key role in maintaining the structural integrity and proper functioning of these tissues.

Structure

Synemin is a large protein, with a molecular weight of approximately 150 kDa. It is composed of a central rod domain flanked by non-helical head and tail domains. The rod domain is responsible for the protein's ability to form homodimers and heterodimers with other IF proteins, while the head and tail domains are thought to mediate interactions with other cellular components.

Function

Synemin functions as a linking protein, connecting the desmin intermediate filament network to dystrophin at the sarcolemma. This connection is crucial for the mechanical stability and resilience of muscle cells. In addition to its structural role, synemin is also thought to participate in signal transduction processes, although the details of these functions are not yet fully understood.

Clinical significance

Mutations in the SYNM gene have been associated with a variety of muscle-related disorders, including dilated cardiomyopathy and limb-girdle muscular dystrophy. These conditions are characterized by progressive muscle weakness and wasting, and can be severely debilitating or even life-threatening.

See also

• Intermediate filament
• Desmin
• Dystrophin
• Dilated cardiomyopathy
• Limb-girdle muscular dystrophy

References

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