CAPN3
Description
The CAPN3 gene provides instructions for making a protein called calpain 3, a crucial enzyme involved in muscle protein breakdown and repair. Located on chromosome 15, CAPN3 plays a vital role in muscle development, growth, and regeneration. Calpain 3 helps maintain muscle fibers by breaking down damaged proteins and facilitating the formation of new ones. This process is essential for muscle function and adapting to various demands.
Associated Diseases
- Limb-girdle muscular dystrophy type 2A (LGMD2A): This is the most common form of muscular dystrophy linked to CAPN3 mutations. It causes progressive muscle weakness and degeneration, primarily affecting the muscles of the hips, shoulders, and legs.
- Calpainopathy: This refers to a group of disorders caused by CAPN3 mutations, including LGMD2A and other less common forms. These conditions often present with varying degrees of muscle weakness, atrophy, and contractures.
Did you know?
Calpain 3 is a highly specific enzyme, primarily acting on muscle proteins. It is not found in other tissues, highlighting its unique role in muscle biology.
