Synonyms: and NACHT-containing protein,CARD 12,CARD,CARD LRR and NACHT containing protein 1,CARD LRR and NACHT containing protein,CARD12,Caspase recruitment domain containing protein 12,Caspase recruitment domain family member 12,Caspase recruitment domain-containing protein 12,CLAN 1,CLAN A,CLAN,CLAN B,CLAN C,CLAN D,Clan protein,CLAN1,CLANA,CLANB,CLANC,CLAND,CLR 2.1,CLR2.1,ICE protease activating factor,Ice protease-activating factor,Ipaf,LRR,NLR family CARD domain containing 4,NLR family CARD domain-containing protein 4,NLRC 4,NLRC4,NLRC4,NOD like receptor C4,Nucleotide binding oligomerization domain leucine rich repeat and CARD domain containing 4,UNQ6189/PRO20215
Background: 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.