Aliases for CAPN12 Gene
External Ids for CAPN12 Gene
Previous GeneCards Identifiers for CAPN12 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 CAPN12 Gene
CAPN12 (Calpain 12) is a Protein Coding gene. Diseases associated with CAPN12 include Coffin-Siris Syndrome 1 and Autosomal Recessive Congenital Ichthyosis. 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 CAPN1.
UniProtKB/Swiss-Prot for CAPN12 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.