CARD8 Chromosome 19

Caspase recruitment domain family member 8
5 variants 5 Health Risk

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What This Gene Does
The protein encoded by this gene belongs to the caspase recruitment domain (CARD)-containing family of proteins, which are involved in pathways leading to activation of caspases or nuclear factor kappa-B (NFKB). This protein may be a component of the inflammasome, a protein complex that plays a role in the activation of proinflammatory caspases. It is thought that this protein acts as an adaptor molecule that negatively regulates NFKB activation, CASP1-dependent IL1B secretion, and apoptosis. Polymorphisms in this gene may be associated with a susceptibility to rheumatoid arthritis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010]
Gene Info
Gene Group
Caspase recruitment domain containing
Locus Type
gene with protein product
Location
19q13.33
Ensembl
ENSG00000105483
Associated Conditions (2)
CARD8-related disorder
Inflammatory bowel disease 30
Key Variants
All Variants (5)
RSID Category Clinical Significance Conditions
RS138051424 Health Risk Conflicting classifications of pathogenicity CARD8-related disorder, CARD8-related disorder
RS138177358 Health Risk Conflicting classifications of pathogenicity CARD8-related disorder, CARD8-related disorder
RS183473284 Health Risk Conflicting classifications of pathogenicity
RS201361713 Health Risk Conflicting classifications of pathogenicity
RS753299915 Health Risk Likely pathogenic Inflammatory bowel disease 30, Inflammatory bowel disease 30
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