NLR family CARD domain containing 4 | OKDB#: 5867 |
Symbols: | NLRC4 | Species: | human | ||
Synonyms: | CLAN, IPAF, AIFEC, CLAN1, CLANA, CLANB, CLANC, CLAND, FCAS4, CARD12, CLR2.1 | Locus: | 2p22.3 in Homo sapiens |
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OMIM
Entrez Gene
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General Comment |
Involved in pyroptosis
NCBI 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] |
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Mutations | 0 mutations | ||||
Genomic Region | show genomic region | ||||
Phenotypes and GWAS | show phenotypes and GWAS | ||||
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created: | Sept. 29, 2020, 2:32 p.m. | by: |
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last update: | Sept. 29, 2020, 2:34 p.m. | by: | hsueh email: |
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