Aliases for CAPN13 Gene
External Ids for CAPN13 Gene
Previous GeneCards Identifiers for CAPN13 Gene
The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes a member of the calpain large subunit family. [provided by RefSeq, Jun 2012]
GeneCards Summary for CAPN13 Gene
CAPN13 (Calpain 13) is a Protein Coding gene. Diseases associated with CAPN13 include Exudative Vitreoretinopathy 2, X-Linked and Coffin-Siris Syndrome 1. Among its related pathways are Degradation of the extracellular matrix and Apoptosis Pathway. Gene Ontology (GO) annotations related to this gene include calcium ion binding and calcium-dependent cysteine-type endopeptidase activity. An important paralog of this gene is CAPN14.
UniProtKB/Swiss-Prot Summary for CAPN13 Gene
Probable 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.