Sarcoglycan

Sarcoglycan is a protein family that is part of the dystrophin-associated protein complex (DAPC). This complex is crucial for the stability of muscle fiber membranes. Mutations in the genes encoding sarcoglycan proteins can lead to muscular dystrophy.

Function

Sarcoglycans are transmembrane proteins that form a subcomplex within the DAPC. This subcomplex, known as the sarcoglycan complex, consists of four different sarcoglycan proteins: alpha, beta, gamma, and delta. The sarcoglycan complex is thought to contribute to the stability of the muscle fiber membrane by linking the cytoskeleton to the extracellular matrix.

Clinical significance

Mutations in the genes encoding sarcoglycan proteins can lead to various forms of muscular dystrophy, including limb-girdle muscular dystrophy types 2C, 2D, 2E, and 2F. These are autosomal recessive disorders characterized by progressive muscle weakness and wasting.

See also

• Dystrophin
• Dystrophin-associated protein complex
• Muscular dystrophy
• Limb-girdle muscular dystrophy

References

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