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FLASH GENE
Symbol NLRP3 contributors: mct/shn - updated : 22-09-2018
HGNC name NLR family, pyrin domain containing 3
HGNC id 16400
ASSOCIATED DISORDERS
corresponding disease(s) FCU , MWS , CINCA , DFNA34
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation      
in autoinflammatory disease
constitutional     --over  
higher in MVK patients higher than in untreated healthy controls
constitutional       gain of function
in age-related macular degeneration (AMD)
constitutional germinal mutation      
in NLRP3 in ischemic heart tissues but not in non-ischemic control tissue
constitutional       loss of function
deficiency leads to decreased APP levels and deposition
constitutional       gain of function
activation of the NLRP1 and NLRP3 inflammasomes in Alzheimer disease
Susceptibility
  • to essential hypertension
  • to autoinflammatory disease and to psoriatic juvenile idiopathic arthritis
  • to Crohn disease
  • Variant & Polymorphism SNP , insertion/deletion
  • homozygote of 12 repeat allele VNTR was significantly higher in patients with hypertension
  • SNP increasing the risk of Crohn disease
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cardiovascularaquired 
    could open new avenues to therapeutic intervention
    miscelleaneoussenescence 
    innovative therapeutic strategy to lower NLRP3 activity to delay multiple age-related chronic diseases
    neurosensorialvisualdegenerative
    therapeutic inhibition of both VEGFA and IL1B or the NLRP3 inflammasome is therefore likely to suppress both forms of AMD
    neurologyneurodegenerativealzheimer
    NLRP3 inflammasome inhibition represents a novel therapeutic intervention for AD
    ANIMAL & CELL MODELS
  • Nlrp3(-/-) mice displa high susceptiblity of infection with a pathogenic influenza A virus (
  • mice carrying a mutation in the Nlrp3 gene produce massive amounts of IL-1beta upon stimulation with microbial stimuli, skin inflammation characterized by neutrophil infiltration and a Th17 cytokine-dominant response (
  • Nlrp3(-/-) mice exhibited delayed neuroinflammation, demyelination, and oligodendrocyte loss
  • ablation of Nlrp3 in mice prevents obesity-induced inflammasome activation in fat depots and liver as well as enhances insulin signaling
  • mice lacking Nlrp3 or caspase-1 showed decreased joint pathology in an ank-deficient model of arthritis
  • Nlrp3-/- mice are resistant to the development of Experimental autoimmune encephalomyelitis (EAE), suggesting the association of the NLRP3 inflammasome with EAE development