SGCA : sarcoglycan alpha

Description

The SGCA gene encodes alpha-sarcoglycan, a transmembrane protein crucial for the structural integrity of skeletal muscle. It forms part of the sarcoglycan complex, a group of proteins that link the cytoskeleton to the extracellular matrix, ensuring proper muscle fiber stability and function. Mutations in SGCA can disrupt the sarcoglycan complex, leading to various muscular dystrophies characterized by progressive muscle weakness and degeneration. Understanding the intricate role of SGCA in muscle physiology provides valuable insights into the pathogenesis of these debilitating diseases.

Associated Diseases

• Limb-girdle muscular dystrophy 2C (LGMD2C)
• Autosomal recessive congenital muscular dystrophy (ARCMD)
• Distal muscular dystrophy

Did you know?

Mutations in SGCA are particularly prevalent in certain populations, such as the Amish community, suggesting founder effects and genetic predisposition.