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Tumor necrosis factor receptor 1

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Template:PBB Tumor necrosis factor receptor superfamily member 1A is a protein that in humans is encoded by the TNFRSF1A gene.[1][2]

Function

The protein encoded by this gene is a member of the Tumor necrosis factor receptor superfamily, which also contains TNFRSF1B. This protein is one of the major receptors for the tumor necrosis factor-alpha. This receptor can activate the transcription factor NF-κB, mediate apoptosis, and function as a regulator of inflammation. Antiapoptotic protein BCL2-associated athanogene 4 (BAG4/SODD) and adaptor proteins TRADD and TRAF2 have been shown to interact with this receptor, and thus play regulatory roles in the signal transduction mediated by the receptor.[3]

Clinical significance

Germline mutations of the extracellular domains of this receptor were found to be associated with the human genetic disorder called tumor necrosis factor associated periodic syndrome (TRAPS) or periodic fever syndrome.[4] Impaired receptor clearance is thought to be a mechanism of the disease.

Mutations in the TNFRSF1A gene is associated with elevated risk of multiple sclerosis.[5]

Serum levels of TNFRSF1A are elevated in schizophrenia and bipolar disorder,[6] and high levels are associated with more severe psychotic symptoms.[7]

High serum levels is also associated with cognitive impairment and dementia.[8][9]

Interactions

TNFRSF1A has been shown to interact with:

See also

References

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Further reading

  • Rath PC, Aggarwal BB (2000). "TNF-induced signaling in apoptosis". J. Clin. Immunol. 19 (6): 350–64. doi:10.1023/A:1020546615229. PMID 10634209.
  • Chen G, Goeddel DV (2002). "TNF-R1 signaling: a beautiful pathway". Science. 296 (5573): 1634–5. doi:10.1126/science.1071924. PMID 12040173.
  • Kollias G, Kontoyiannis D (2003). "Role of TNF/TNFR in autoimmunity: specific TNF receptor blockade may be advantageous to anti-TNF treatments". Cytokine Growth Factor Rev. 13 (4–5): 315–21. doi:10.1016/S1359-6101(02)00019-9. PMID 12220546.
  • Dodé C, Cuisset L, Delpech M, Grateau G (2003). "TNFRSF1A-associated periodic syndrome (TRAPS), Muckle-Wells syndrome (MWS) and renal amyloidosis". J. Nephrol. 16 (3): 435–7. PMID 12832748.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  • Stojanov S, McDermott MF (2007). "The tumour necrosis factor receptor-associated periodic syndrome: current concepts". Expert Reviews in Molecular Medicine. 7 (22): 1–18. doi:10.1017/S1462399405009749. PMID 16216134.
  • Rezaei N (2007). "TNF-receptor-associated periodic syndrome (TRAPS): an autosomal dominant multisystem disorder". Clin. Rheumatol. 25 (6): 773–7. doi:10.1007/s10067-005-0198-6. PMID 16447098.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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