SGCG

SGCG (also known as Sarcoglycan Gamma) is a protein that in humans is encoded by the SGCG 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

SGCG is a critical component of the Dystrophin-associated protein complex which provides a vital link between the cytoskeleton and the extracellular matrix. This complex is thought to protect cells from the mechanical stress of muscle contraction. Mutations in the SGCG gene can disrupt the Dystrophin-associated protein complex, leading to muscular dystrophy.

Clinical significance

Mutations in the SGCG gene are associated with autosomal recessive limb-girdle muscular dystrophy type 2C. This condition is characterized by progressive muscle weakness and wasting, primarily affecting the muscles around the hips and shoulders (the "limb-girdle" muscles). Symptoms typically begin in childhood and worsen over time, often leading to an inability to walk.

See also

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

References

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External links

• SGCG at the National Center for Biotechnology Information
• SGCG at the U.S. National Library of Medicine