Aliases for CASP12 Gene
External Ids for CASP12 Gene
Previous HGNC Symbols for CASP12 Gene
Previous GeneCards Identifiers for CASP12 Gene
Caspases are cysteine proteases that cleave C-terminal aspartic acid residues on their substrate molecules. This gene is most highly related to members of the ICE subfamily of caspases that process inflammatory cytokines. In rodents, the homolog of this gene mediates apoptosis in response to endoplasmic reticulum stress. However, in humans this gene contains a polymorphism for the presence or absence of a premature stop codon. The majority of human individuals have the premature stop codon and produce a truncated non-functional protein. The read-through codon occurs primarily in individuals of African descent and carriers have endotoxin hypo-responsiveness and an increased susceptibility to severe sepsis. Several alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Feb 2011]
GeneCards Summary for CASP12 Gene
CASP12 (Caspase 12 (Gene/Pseudogene)) is a Protein Coding gene. Diseases associated with CASP12 include Alzheimer Disease Mitochondrial. Among its related pathways are Protein processing in endoplasmic reticulum and Apoptosis Pathway. GO annotations related to this gene include cysteine-type endopeptidase activity and cysteine-type endopeptidase activity involved in execution phase of apoptosis. An important paralog of this gene is CASP4.
UniProtKB/Swiss-Prot for CASP12 Gene
Has no protease activity. May reduce cytokine release in response to bacterial lipopolysaccharide during infections. Reduces activation of NF-kappa-B in response to TNF.
Caspases (cysteinyl aspartate proteases) are involved in the signaling pathways of apoptosis, necrosis and inflammation. These enzymes can be divided into initiators and effectors. The initiator isoforms are activated by, and interact with, upstream adaptor molecules.