CAPN15
Description
The CAPN15 gene encodes calpain-15, a protein primarily found in skeletal muscle. Calpain-15 is a cysteine protease, an enzyme that breaks down other proteins. It plays a crucial role in muscle protein turnover, a process vital for muscle growth, repair, and adaptation to exercise. Mutations in the CAPN15 gene have been linked to various muscle disorders, highlighting its significance in maintaining muscle health.
Associated Diseases
- Limb-girdle muscular dystrophy type 2A (LGMD2A)
- Myofibrillar myopathy
- Distal myopathy
- Centronuclear myopathy
- Inclusion body myositis
Did you know?
Calpain-15 is highly expressed in skeletal muscle, particularly in fast-twitch muscle fibers, which are responsible for powerful, short-duration movements.
