ZNFX1

Chr 20

zinc finger NFX1-type containing 1

Also known as: IMD91

NCBI Gene: 57169 ENSG00000124201 UniProt: Q9P2E3

The protein functions as a double-stranded RNA sensor that recognizes viral RNA and initiates the type I interferon response by interacting with MAVS, and is also required for immunity against bacteria including mycobacteria. Autosomal recessive mutations cause immunodeficiency 91 and hyperinflammation, characterized by increased susceptibility to viral and bacterial infections. The gene is highly constrained against loss-of-function variants (pLI = 1.00, LOEUF = 0.25), indicating that heterozygous loss-of-function variants are likely not tolerated in the general population.

ResearchSummary from RefSeq, OMIM, UniProt

Enables RNA binding activity. Involved in defense response to bacterium and defense response to virus. Is active in cytoplasmic stress granule. Implicated in immunodeficiency 91. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtImmunodeficiency 91 and hyperinflammation

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

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.25

LOEUF· LoF intol.

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Mechanism

Some data sources returned errors (1)