Zinc finger nfx1-type containing 1

Last updated
ZNFX1
Identifiers
Aliases ZNFX1 , zinc finger NFX1-type containing 1, IMD91
External IDs MGI: 2138982 HomoloGene: 10877 GeneCards: ZNFX1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_021035

NM_001033196
NM_001291162

RefSeq (protein)

NP_066363

NP_001028368
NP_001278091

Location (UCSC) Chr 20: 49.24 – 49.28 Mb Chr 2: 166.88 – 166.9 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Zinc finger NFX1-type containing 1 is a protein that in humans is encoded by the ZNFX1 gene. [5]

Contents

Clinical significance

ZNFX1 deficiency in humans is associated with severe multisystem inflammatory disease. [6] Affected individuals may develop liver, lung or kidney failure, seizures and hemophagocytic lymphohistiocytosis (HLH) upon viral infections. Intermittent monocytosis is a hallmark laboratory finding in ZNFX1 deficiency. The disorder is thought to result from alterations in the half-life of the mRNA of interferon-stimulated genes (ISG) and is also associated with poorer clearance of viral infections in monocytes.

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References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000124201 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000039501 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: Zinc finger NFX1-type containing 1" . Retrieved 2017-11-10.
  6. Vavassori S, Chou J, Faletti LE, Haunerdinger V, Opitz L, Joset P, et al. (August 2021). "Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency". The Journal of Allergy and Clinical Immunology. 148 (2): 381–393. doi:10.1016/j.jaci.2021.03.045. PMC   8569286 . PMID   33872655.

Further reading