The SGCA gene provides instructions for making the alpha component (subunit) of a group of proteins called the sarcoglycan protein complex. The sarcoglycan protein complex is located in the membrane surrounding muscle cells. It helps maintain the structure of muscle tissue by attaching (binding) to and stabilizing the dystrophin complex, which is made up of proteins called dystrophins and dystroglycans. The large dystrophin complex strengthens muscle fibers and protects them from injury as muscles tense (contract) and relax. It acts as an anchor, connecting each muscle cell’s structural framework (cytoskeleton) with the lattice of proteins and other molecules outside the cell (extracellular matrix).
Other Names
50 kDa dystrophin-associated glycoprotein; 50-DAG; 50DAG; 50kD DAG; adhalin; ADL; alpha-sarcoglycan; alpha-SG; DAG2; DMDA2; dystroglycan-2; LGMD2D; sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein); SCARMD1; SG-alpha; SGCA_HUMAN
Related Genetics Topics
Identifiers
- NCBI Gene: 6442
- OMIM: 600119
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
