Aliases for CAPN3 Gene
- Calpain 3 2 3 5
- New Calpain 1 3 4
- EC 220.127.116.11 4 63
- 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 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2A. Among its related pathways are DREAM Repression and Dynorphin Expression and TNF-alpha/NF-kB Signaling 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.