Molecule3 diseases

Gasdermin D

Pore-forming protein

Expression change
dysregulated
Evidence level
strong

Expression across diseases

DiseaseRoleExpressionEvidence
Cryopyrin-Associated Periodic SyndromesPore-forming proteindysregulatedstrong
Familial Mediterranean FeverPyroptosis executorCleaved/activatedmoderate
Schnitzler SyndromeMembrane pore formerActiveemerging

Role in pathogenesis

Cleaved by caspase-1 to form membrane pores; mediates pyroptosis and IL-1β/IL-18 release. Constitutive basal cleavage in CAPS mutant cells.

Sources (1)

DetailsMolina-López C et al. (2024) Pathogenic NLRP3 mutants form constitutively active inflammasomes resulting in immune-metabolic limitation of IL-1β productionDOI