Gene Symbol | NLRC4 |
Entrez Gene ID | 58484 |
Full Name | NLR family CARD domain containing 4 |
Synonyms | AIFEC,CARD12,CLAN,CLAN1,CLANA,CLANB,CLANC,CLAND,CLR2.1,FCAS4,IPAF |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Oct 2014]. |
Disorder MIM: | |
Disorder Html: | Autoinflammation with infantile enterocolitis, 616050 (3); ?Familial cold autoinflammatory syndrome 4, 616115 (3) |