3 Ontology Annotations
| GO Term | Gene Name |
|---|---|
| GO:0004198 | IPR029531 |
| GO:0006508 | IPR029531 |
| GO:0045214 | IPR029531 |
| Type: | Family | Name: | Calpain-3 |
| 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 [, ]. | Short Name: | CAPN3 |
| GO Term | Gene Name |
|---|---|
| GO:0004198 | IPR029531 |
| GO:0006508 | IPR029531 |
| GO:0045214 | IPR029531 |
