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CASP8A gene on chromosome 2q33-q34 that encodes a protein belonging to the cysteine-aspartic acid protease (caspase) family which, once activated by proteolytic processing, plays a central role in the execution phase of cell apoptosis, as well as various stages of embryological development. CASP8 is an initiator-type caspase, which is activated by, and interacts with, upstream adaptor molecules through CARD and DED protein–protein interaction domains; it is involved in the programmed cell death induced by Fas and various apoptotic stimuli. It is highly expressed in peripheral blood leukocytes and in the spleen, thymus and liver.
CASP8 has been detected in the insoluble fraction of affected brain regions in Huntington disease, suggesting a role in neurodegenerative diseases.