Last updated on: 01.12.2023

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The TNFRSF1A gene (TNFRSF1A stands for "TNF Receptor Superfamily Member 1A") is a protein coding gene located on chromosome 12p13.31.

General information
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The TNFRSF1A gene encodes a member of the TNF receptor superfamily, the tumor necrosis factor receptor superfamily member 1A (TNFRSF1A), also known as tumor necrosis factor receptor 1 (TNFR1) or CD120a.

TNFRSF1A is a ubiquitous membrane receptor that bindstumor necrosis factor-alpha (TNFα) (see figure). The encoded receptor protein occurs in membrane-bound and soluble form. The receptor protein interacts with membrane-bound or soluble forms of its ligand, tumor necrosis factor alpha.

Binding of the membrane-bound tumour necrosis factor alpha to its receptor leads to trimerization and activation of the receptor (see figure), which plays a role in cell survival, apoptosis and inflammation. Proteolytic processing of the encoded receptor leads to the release of the soluble form of the receptor. This circulating part of the receptor can interact with the free tumor necrosis factor-alpha and is thus able to inhibit inflammation.

Clinical picture
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The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting signaling complex (DISC) performs proteolytic activation of caspase-8, which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) that mediates apoptosis.

Mutations in this gene underlie tumor necrosis factor receptor-associated periodic syndrome(TNF receptor-associated periodic fever syndrome/TRAPS), which is characterized by fever, gastrointestinal symptoms and other inflammatory features.

Mutations in this gene are also associated with multiple sclerosis in human patients.

Related signaling pathways include cytokine signaling pathways in the immune system and IL-4 signaling pathways.

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  2. Steiner JD et al. (2023) A novel TNFRSF1A mutation associated with TNF-receptor-associated periodic syndrome and its metabolic signature. Rheumatology (Oxford) 62:3459-3468.

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Last updated on: 01.12.2023