Caspase 8 gene is mapped on chromosome 2q33-34 that contains 11 exons spanning at about 30kb which encodes cysteine-aspartic acid protease that plays an essential role in the execution-phase ofcell apoptosis stimulated by Fas and other apoptotic stimuli. It is a member of aspartic family that has a product known as FLICE which encodes interleukin 1 beta converting enzyme.
Caspase 8 is associated with Huntington disease that is identified as insoluble fraction of the affected brain region causing in neurodegenerative disease. It is also subsist as dormant proenzymes composed of a prodomain that needed proteolytic processing at sealed internal aspartic residues to create heterodimeric enzyme wherein the active dimeric enzymes is then liberated and free to turn on downstream apoptotic protease.
Caspase 8 gene mutations lead to deficiencies in post natal immune activation of immature lymphocytes 2 associated with autoimmune lymphoproliferative syndrome that characterized by splenomegaly, lymphadenopathy and defective CD95 that induced apoptosis on peripheral bloodlymphocytes resulted to defective activation of B-lymphocytes, T-lymphocytes and natural killer cells leading to immunodeficiency typify by herpes simplex virus infection and poor immunization responses.
Gene name: CASP8
Protein name: Caspase-8