CASP12, Official Symbol CASP12provided by HGNC Official Full Name caspase 12 (gene/pseudogene)provided by HGNC Primary source HGNC:HGNC:19004 See related MIM:608633; AllianceGenome:HGNC:19004 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CASP-12; CASP12P1 Summary 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] Annotation information Annotation category: suggests misassembly Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene. Expression Broad expression in ovary (RPKM 2.1), endometrium (RPKM 1.1) and 14 other tissues See more