NFX1

Chr 9

nuclear transcription factor, X-box binding 1

Also known as: NFX2, TEG-42, Tex42

NCBI Gene: 4799 ENSG00000086102 UniProt: Q12986

NFX1 encodes a transcriptional repressor that binds to X-box motifs in MHC class II gene promoters to regulate their expression and limit the duration of inflammatory responses induced by interferon-gamma. The gene is highly constrained against loss-of-function variants (LOEUF 0.457), but pathogenic variants and associated human disease phenotypes have not been definitively established in the literature. Additional research is needed to determine the clinical significance of NFX1 variants in pediatric patients.

ResearchSummary from RefSeq, UniProt

MHC class II gene expression is controlled primarily at the transcriptional level by transcription factors that bind to the X and Y boxes, two highly conserved elements in the proximal promoter of MHC class II genes. The protein encoded by this gene is a transcriptional repressor capable of binding to the conserved X box motif of HLA-DRA and other MHC class II genes in vitro. The protein may play a role in regulating the duration of an inflammatory response by limiting the period in which class II MHC molecules are induced by IFN-gamma. Three alternative splice variants, each of which encodes a different isoform, have been identified. [provided by RefSeq, Jul 2008]

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)

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P/LP submissions

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P/LP missense

0.46

LOEUF

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Mechanism

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