Gene Symbol | TNFRSF1A |
Entrez Gene ID | 7132 |
Full Name | TNF receptor superfamily member 1A |
Synonyms | CD120a,FPF,TBP1,TNF-R,TNF-R-I,TNF-R55,TNFAR,TNFR1,TNFR55,TNFR60,p55,p55-R,p60 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the TNF receptor superfamily of proteins. The encoded receptor is found 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 the membrane-bound receptor induces receptor trimerization and activation, which plays a role in cell survival, apoptosis, and inflammation. Proteolytic processing of the encoded receptor results in release of the soluble form of the receptor, which can interact with free tumor necrosis factor alpha to inhibit inflammation. Mutations in this gene underlie tumor necrosis factor receptor-associated periodic syndrome (TRAPS), characterized by fever, abdominal pain and other features. Mutations in this gene may also be associated with multiple sclerosis in human patients. [provided by RefSeq, Sep 2016]. |
Disorder MIM: | |
Disorder Html: | Periodic fever, familial, 142680 (3); {Multiple sclerosis, susceptibility to, 5}, 614810 (3) |