ZNFX1
Function
RNA-binding protein that initiates the antiviral response and is required to restrict the replication of RNA viruses (PubMed:33872655). Acts as a double-stranded RNA (dsRNA) sensor that recognizes viral RNA and then interacts with MAVS to initiate the type I interferon response (By similarity). Also required for immunity against some bacteria, such as mycobacteria (PubMed:33876776).
Involvement in disease
Immunodeficiency 91 and hyperinflammation
IMD91
An autosomal recessive disorder characterized by immunodeficiency, recurrent infections, and hyperinflammation with systemic involvement. Most patients eventually develop hepatic or renal failure, may have compromised neurologic function, lymphadenopathy or hepatosplenomegaly. Early death often occurs due to multiorgan failure.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the ZNFX1 family.
Tissue Specificity
Widely expressed.
Cellular localization
- Mitochondrion outer membrane
- Cytoplasm
- Stress granule
Alternative names
KIAA1404, ZNFX1, NFX1-type zinc finger-containing protein 1