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Binding of TNF to TNF receptor 1 (TNFR1) induces both the survival pathway by activation of the NF-kB transcription factor, and the death pathway by apoptosis. Mutations in the TNFR1 gene (TNFSFR1A) are responsible for the auto-inflammatory disease TRAPS, a dominantly inherited hereditary recurrent fever. Various defects such as defective TNFR1 receptor shedding, protein misfolding, NF-kB activation, or apoptosis have been associated with the pathogenesis of TRAPS.  Previously, we have identified TNFR1-d2, an exon2-spliced transcript of TNFRSF1A. TNFR1-d2 is expressed in a tissue-specific manner in contrast to ubiquitous expression of the full-length TNFR1 transcript.

Characterization of the TNFR1-d2 protein: Implication in TNF receptor associated periodic syndrome (TRAPS)?