CASP12 gene

Functional CASP12 gene variation between chimpanzees & humans

Caspases are a family of cysteine-rich proteases that cleave C-terminal aspartic acid residues in target proteins. Caspase-12 is encoded by the CASP12 locus. Comparison of humans with the other Great Apes shows a functional 1689 nuc gene in chimps, but a pre-mature termination mutation at nucleotide position 373 in most humans, where CGA TGA. [Note the 2nd and 1st position substitution mutations in the other two boxes]. Loss of Caspase-12 function is implicated in Alzheimer Disease. In some African populations, a read-through functional allele is associated with reduced immunological response to endotoxins, which can result in severe sepsis.


Figure & text 2013 by Steven M. Carr