CASP12

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]

Description

Caspase 12 (gene/pseudogene)

Predicted location

Protein family

-

Chromosome

11 (104756445 - 104769397)

Ensembl ID

ENSG00000204403  (ver. 74.37)

Orthologs

Mouse Casp12: ENSMUSG00000025887

UniProt

 

neXtProt

 

Human splice variants
Mouse splice variants

Protein structure