Aliases for CAPN3 Gene
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, Autosomal Recessive 1 and Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4. Among its related pathways are Degradation of the extracellular matrix and nNOS Signaling in Skeletal Muscle. Gene Ontology (GO) annotations related to this gene include calcium ion binding and peptidase activity. An important paralog of this gene is CAPN9.
UniProtKB/Swiss-Prot Summary 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.