Fas

Fas is a protein that in humans is encoded by the FAS gene. The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains a death domain. It has been shown to play a central role in the physiological regulation of programmed cell death, and has been implicated in the pathogenesis of various malignancies and diseases of the immune system. The interaction of this receptor with its ligand allows the formation of a death-inducing signaling complex that includes Fas-associated death domain protein (FADD), caspase 8, and caspase 10.

Function

The FAS protein is a cell surface receptor that plays a crucial role in regulating apoptosis, or programmed cell death. The binding of this receptor with its ligand, FAS ligand (FASL), triggers a signal transduction pathway that culminates in apoptosis. This process is essential for the development and maintenance of the immune system, and defects in FAS can result in autoimmune diseases and cancer.

Clinical significance

Mutations in the FAS gene can lead to various disorders. For example, they can cause autoimmune lymphoproliferative syndrome (ALPS), a rare disorder characterized by non-malignant lymphoproliferation, autoimmunity, and an increased risk of lymphoma. Mutations in FAS have also been associated with other autoimmune diseases, such as systemic lupus erythematosus (SLE).

See also

• Fas ligand
• Apoptosis
• Autoimmune lymphoproliferative syndrome
• Systemic lupus erythematosus

External links

• FAS at the US National Library of Medicine Medical Subject Headings (MeSH)

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