TNFR1 (TNFRSF1A)
Mutated receptor — primary disease gene product
- Expression
- 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.