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HPMR

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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


For retrieval of Nucleotide and Amino Acid sequences please go to: 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]
General function
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Cellular localization
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Ovarian function
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Expression regulated by
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Ovarian localization
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Follicle stages
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Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
OMIM \ Animal Model
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created: Sept. 29, 2020, 2:32 p.m. by: system   email:
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last update: Sept. 29, 2020, 2:34 p.m. by: hsueh    email:



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