Molecule
TNFR1 (TNFRSF1A)
Mutated receptor — primary disease gene product
- Expression change
- Misfolded / ER-retained
- Evidence level
- established
Role in pathogenesis
TNFR1 is the 55 kDa type 1 TNF receptor encoded by TNFRSF1A. In TRAPS, missense mutations in the extracellular cysteine-rich domains cause protein misfolding, ER retention, and abnormal disulfide-linked oligomerisation. The mutant receptor does not function normally on the cell surface but instead potentiates inflammation from within the ER.
Sources (3)
DetailsMcDermott MF et al. (1999) Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromesDOI ↗