DefinitionThis section has been translated automatically.
The TNFRSF1A gene (TNFRSF1A stands for "TNF Receptor Superfamily Member 1A") is a protein coding gene located on chromosome 12p13.31.
General informationThis section has been translated automatically.
The TNFRSF1A gene encodes a member of the TNF receptor superfamily, tumor necrosis factor receptor superfamily member 1A (TNFRSF1A), also known as tumor necrosis factor receptor 1 (TNFR1) or CD120a, is a ubiquitous membrane receptor that binds tumor necrosis factor-alpha (TNFα) (see Fig.). The encoded receptor protein exists in membrane-bound and soluble forms that interact with membrane-bound and soluble forms, respectively, of its ligand, tumor necrosis factor alpha.
Binding of membrane-bound tumor necrosis factor alpha to its receptor leads to trimerization and activation of the receptor (see Fig.), 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, which can interact with free tumor necrosis factor alpha to inhibit inflammation.
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Clinical pictureThis section has been translated automatically.
The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing 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(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 pathways include cytokine signaling pathways in the immune system and IL-4 signaling pathways.
LiteratureThis section has been translated automatically.
- Kusuhara K et al (2004) Tumor necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1Agene in a Japanese family. Eur J Pediatr 163: 30-32
- Takada K et al (2003) Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome. Arthritis Rheum 48: 2645-2651
- Toro JR (2000) Tumor necrosis factor receptor-associated periodic syndrome. Arch Dermatol 136: 1487-1494
- Williamson LM, Hull D, Mehta R, Reeves WG, Robinson BHB, Toghill PJ (1982) Familial hibernian fever. Quart J Med 51: 469-480