SGCB
SGCB (Sarcoglycan Beta) is a protein that in humans is encoded by the SGCB gene. It is a component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex (DGC) which forms a link between the F-actin cytoskeleton and the extracellular matrix.
Function[edit | edit source]
The SGCB protein is a critical component of the sarcoglycan complex. This complex is part of the larger dystrophin-glycoprotein complex (DGC), which is crucial for the stability of muscle fiber membranes and for the linking of the actin cytoskeleton to the extracellular matrix.
Clinical significance[edit | edit source]
Mutations in the SGCB gene can lead to a type of muscular dystrophy known as limb-girdle muscular dystrophy type 2E (LGMD2E). This is a condition characterized by progressive muscle weakness and wasting, primarily affecting the muscles around the hips and shoulders (the "limb-girdle" muscles). Symptoms usually begin in childhood and can vary in severity.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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