NLRC5

Chr 16

NLR family CARD domain containing 5

Also known as: CLR16.1, NOD27, NOD4

NCBI Gene: 84166 ENSG00000140853 UniProt: Q86WI3 OMIM: 613537

This protein regulates NF-kappa-B and interferon signaling pathways, controlling innate immunity and antiviral defense mechanisms. Mutations cause primary immunodeficiency with severe viral infections and hemophagocytic lymphohistiocytosis, inherited in an autosomal recessive pattern. The gene is highly constrained against loss-of-function variants, indicating intolerance to protein-disrupting mutations.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the caspase recruitment domain-containing NLR family. This gene plays a role in cytokine response and antiviral immunity through its inhibition of NF-kappa-B activation and negative regulation of type I interferon signaling pathways. [provided by RefSeq, Oct 2011]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.45

LOEUF

Multiple*

Mechanism· predicted