FASLG Gene

Last updated on: 20.11.2023

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Definition
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The FASLG gene (FASLG stands for "FAS ligand") is a protein-coding gene located on chromosome 1q24.3. Alternatively spliced transcript variants have been described. The protein encoded by the FASLG gene is a cytokine that binds to the TNFRSF6/FAS receptor. This receptor transmits an apoptotic signal into cells.

The FASLG protein is involved in apoptosis mediated by cytotoxic T cells. It is also involved in apoptosis mediated by natural killer cells and in the development of T cells. It initiates activation-induced cell death(AICD) in antigen-activated T cells, which contributes to the termination of immune responses. TNFRSF6/FAS-mediated apoptosis also plays a role in the induction of peripheral tolerance.

Note(s)
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The FAS/FASLG signaling pathway is essential for the regulation of the immune system, including activation-induced cell death (AICD) of T cells and cell death induced by cytotoxic T lymphocytes. It is also associated with the progression of various cancers.

Defects in this gene are associated with cases of systemic lupus erythematosus (SLE).

Furthermore, the rareautoimmune lymphoproliferative syndrome type Ib (ALPS type 1B) is one of the immunodeficiency syndromes associated with FASLG.

Literature
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  1. Canale VC et al (1967) Chronic lymphadenopathy simulating malignant lymphoma. The Journal of pediatrics 70: 891-899.
  2. Fisher GH et al (1995) Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. Cell 81:935-946.
  3. Drappa J et al. (1996) Fas gene mutations in the CanaleSmith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity.The New England journal of medicine 335: 1643-1649.
  4. Rao VK et al (2011) How I treat autoimmune lymphoproliferative syndrome. Blood 118: 5741-5751.
  5. Sneller MC et al (1997) Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. Blood 89: 1341-1348.
  6. Sneller MC et al.(1992) A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease. The Journal of clinical investigation 90: 334-341.
  7. Teachey DT et al. (2010) Advances in the management and understanding of autoimmune lymphoproliferative syndrome (ALPS). British journal of haematology 148: 205-216.
  8. Teachey DT (2012) New advances in the diagnosis and treatment of autoimmune lymphoproliferative syndrome. Current opinion in pediatrics 24:1-8.
  9. van der Burg M et al (2000) Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: a dominant or recessive disease? Pediatric research 47: 336-343.

Incoming links (3)

FAS-ligand; PID; TNF/TNFR superfamily;

Outgoing links (1)

Lupus erythematosus systemic;

Last updated on: 20.11.2023