Protein Variants | Comment | Organism |
---|---|---|
C129S | inactive mutant enzyme | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P20807 | - |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
HEK-293T cell | - |
Homo sapiens | - |
Synonyms | Comment | Organism |
---|---|---|
CAPN3 | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | loss of calpain-3 (CAPN3) activity leads to limb-girdle muscular dystrophy 2A. Calpain-3 mediates regulation of the Na+-Ca2+ exchanger isoform 3. The loss of regulation of Na+-Ca2+ exchanger isoform 3 (NCX3) by calpain-3 can be implicated in diverse muscular pathologies such as the limb-girdle muscular dystrophy 2A | Homo sapiens |