muscle-specific calcium-activated neutral protease 3 large subunit
New calpain 1
Calcium-regulated non-lysosomal thiol-protease.
Isoform I is skeletal muscle specific.
Involvement in disease
Defects in CAPN3 are the cause of limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]. LGMD2A is an autosomal recessive degenerative myopathy characterized by progressive symmetrical atrophy and weakness of the proximal limb muscles and elevated serum creatine kinase. The symptoms usually begin during the first two decades of life, and the disease gradually worsens, often resulting in loss of walking ability 10 or 20 years after onset.
Belongs to the peptidase C2 family. Contains 1 calpain catalytic domain. Contains 4 EF-hand domains.