NLR family CARD domain containing 4
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Autoinflammatory disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownCOVID-19 research
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownPrimary immunodeficiency or monogenic inflammatory bowel disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownGastrointestinal epithelial barrier disorders
Periodic fever syndromes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedperiodic fever-infantile enterocolitis-autoinflammatory syndrome
familial cold autoinflammatory syndrome 4
autoinflammatory syndrome
musculoskeletal system disorder
hereditary spastic paraplegia 4
Autosomal dominant spastic paraplegia type 4
hereditary disease
alopecia
atopic eczema
infection
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
NLR family CARD domain-containing protein 4
Key component of inflammasomes that indirectly senses specific proteins from pathogenic bacteria and fungi and responds by assembling an inflammasome complex that promotes caspase-1 activation, cytokine production and macrophage pyroptosis (PubMed:15107016). The NLRC4 inflammasome is activated as part of the innate immune response to a range of intracellular bacteria (By similarity)
Curated MONDO disease pages that list NLRC4 among their top associated genes.
NLRC4 · Q9NPP4
Mean pLDDT
85.1/ 100
Confident
1,024 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
