ARSJ
Description
The ARSJ gene, located on chromosome 19, encodes the alpha-sarcoglycan protein. This protein is a component of the dystrophin-glycoprotein complex (DGC), a crucial structure that links the cytoskeleton of muscle cells to the extracellular matrix. The DGC plays a vital role in maintaining muscle integrity and protecting it from damage during contraction. Mutations in the ARSJ gene can disrupt the function of the DGC, leading to a range of skeletal and muscular disorders.
Associated Diseases
- Limb-girdle muscular dystrophy type 2C (LGMD2C)
- Congenital muscular dystrophy with merosin deficiency (CMD-MD)
- Scapuloperoneal muscular dystrophy
Did you know?
Mutations in the ARSJ gene are particularly common in certain populations, such as those of Finnish descent.
