Aliases for CAPN7 Gene
External Ids for CAPN7 Gene
Previous GeneCards Identifiers for CAPN7 Gene
Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The function of the protein encoded by this gene is not known. An orthologue has been found in mouse but it seems to diverge from other family members. The mouse orthologue is thought to be calcium independent with protease activity. [provided by RefSeq, Jul 2008]
GeneCards Summary for CAPN7 Gene
CAPN7 (Calpain 7) is a Protein Coding gene. Diseases associated with CAPN7 include Coffin-Siris Syndrome 1 and Autosomal Dominant Non-Syndromic Intellectual Disability. Among its related pathways are Degradation of the extracellular matrix and Apoptosis Pathway. Gene Ontology (GO) annotations related to this gene include endopeptidase activity and MIT domain binding. An important paralog of this gene is CAPN1.
UniProtKB/Swiss-Prot Summary for CAPN7 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.