| Primary Identifier | IPR029531 | Type | Family |
| Short Name | CAPN3 |
| description | Calpain-3 (CAPN3) belongs to the calpain family, which consists of a group of Ca2+ dependent cysteine proteases that regulate functions of substrates by proteolysis [, ]. Calpain-3 is a calcium-dependent cysteine protease mainly expressed in skeletal muscle. It is involved in sarcomere maintenance and remodelling []. It interacts with myospryn, which is a muscle-specific protein that functions in vesicular trafficking and protein kinase A signalling []. Mutations of the calpain-3 gene cause limb-girdle muscular dystrophy 2A (LGMD2A), an autosomal recessive degenerative myopathy characterised by progressive symmetrical atrophy and weakness of the proximal limb muscles and elevated serum creatine kinase [, ]. |
