Gene: NLRC4

Alternate names for this Gene: AIFEC|CARD12|CLAN|CLAN1|CLANA|CLANB|CLANC|CLAND|CLR2.1|FCAS4|IPAF

Gene Summary: This gene encodes a member of the caspase recruitment domain-containing NLR family. Family members play essential roles in innate immune response to a wide range of pathogenic organisms, tissue damage and other cellular stresses. Mutations in this gene result in autoinflammation with infantile enterocolitis. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 2

Location in Chromosome : 2p22.3

Description of this Gene: NLR family CARD domain containing 4

Type of Gene: protein-coding

rs587777840 in NLRC4 gene and AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS PMID 25217960 2014 Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation.

PMID 25217959 2014 An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome.

rs212713 in NLRC4 gene and C-reactive protein measurement PMID 24182552 2014 Novel gene variants predict serum levels of the cytokines IL-18 and IL-1ra in older adults.

rs606231460 in NLRC4 gene and FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4 PMID 25385754 2014 An inherited mutation in NLRC4 causes autoinflammation in human and mice.

rs385076 in NLRC4 gene and Interleukin 18 Measurement PMID 27989323 2017 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors.