Aliases for CAPN3 Gene
- Calpain 3 2 3 5
- New Calpain 1 3 4
- EC 22.214.171.124 4 58
- CANPL3 3 4
- CANP3 3 4
- NCL-1 3 4
- Muscle-Specific Calcium-Activated Neutral Protease 3 Large Subunit 3
- Muscle-Specific Calcium-Activated Neutral Protease 3 4
- Calpain P94, Large [Catalytic] Subunit 3
- Calcium-Activated Neutral Proteinase 3 4
- Calpain, Large Polypeptide L3 3
External Ids for CAPN3 Gene
Previous HGNC Symbols for CAPN3 Gene
Previous GeneCards Identifiers for CAPN3 Gene
Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed. [provided by RefSeq, Jul 2008]
GeneCards Summary for CAPN3 Gene
CAPN3 (Calpain 3) is a Protein Coding gene. Diseases associated with CAPN3 include Muscular Dystrophy, Limb-Girdle, Type 2A and Muscular Dystrophy, Congenital. Among its related pathways are Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Apoptosis Pathway. GO annotations related to this gene include calcium ion binding and peptidase activity. An important paralog of this gene is CAPN9.
UniProtKB/Swiss-Prot for CAPN3 Gene
Calcium-regulated non-lysosomal thiol-protease.
Calpains are a group of calcium-sensitive cysteine proteases that are ubiquitously expressed in mammals. Structurally, calpains contain two subunits; an 80 kDa catalytic subunit and a 28 kDa regulatory subunit that functions as a chaperone to stabilize the 80 kDa structure.