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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
References[edit | edit source]
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