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.