FADD

Description

The FADD (Fas associated via death domain) is a protein-coding gene located on chromosome 11.

FADD, also known as FAS-associated death domain protein or MORT1, is encoded by the FADD gene located on chromosome 11 in humans. It acts as an adaptor protein, bridging members of the tumor necrosis factor receptor superfamily, such as the Fas-receptor, to procaspases 8 and 10. This interaction forms the death-inducing signaling complex (DISC), initiating apoptosis. FADD is a 23 kDa protein with two main domains: a death domain (DD) and a death effector domain (DED). The DD binds to receptors like the Fas receptor, while the DED binds to procaspase 8. FADD's role extends beyond apoptosis, influencing proliferation, cell cycle regulation, and development. Upon stimulation by the Fas ligand, the Fas receptor trimerises.

FADD acts as an adaptor molecule, bringing together caspases CASP8 or CASP10 with activated FAS/CD95 or TNFRSF1A/TNFR-1 receptors. This interaction forms the death-inducing signaling complex (DISC), which activates CASP8 through proteolytic cleavage. Active CASP8 then triggers a cascade of caspases, leading to apoptosis. FADD also plays a role in the interferon-mediated antiviral immune response, positively regulating interferon signaling.

FADD is also known as GIG3, IMD90, MORT1.

Associated Diseases

• Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations
• FADD-related immunodeficiency