HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
DUOX1
dual oxidase 1
Chromosome 15 · 15q21.1
NCBI Gene: 53905Ensembl: ENSG00000137857.19HGNC: HGNC:3062UniProt: Q9NRD9
89PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
peroxidase activitycalcium ion bindingprotein bindingpositive regulation of interleukin-8 productionesophageal diseaseneoplasmlung cancerinfection
✦AI Summary

DUOX1 (dual oxidase 1) is a membrane-bound NADPH oxidase that generates hydrogen peroxide (H2O2) for essential physiological processes 1. The enzyme plays a critical role in thyroid hormone synthesis by producing H2O2 required for thyroid peroxidase activity 1. DUOX1 also contributes to antimicrobial defense at mucosal surfaces through lactoperoxidase-mediated production of hypothiocyanite, which can inactivate pathogens including influenza virus 1. The protein contains functional domains including FAD and NADPH binding sites, and exhibits both oxidase and potential peroxidase activities through its N-terminal peroxidase-like domain 1. In disease contexts, DUOX1 expression is frequently dysregulated, particularly being silenced in epithelial-derived cancers through epigenetic mechanisms 1. While primarily expressed in epithelial tissues under normal conditions, DUOX1 dysfunction interferes with oxidative metabolism and contributes to various disease pathologies 1. The enzyme requires its maturation factor DUOXA1 for proper function, and both proteins are important therapeutic targets due to their role in cellular redox pathways 1. Understanding DUOX1's mechanistic functions in disease pathophysiology may provide valuable diagnostic tools and novel therapeutic approaches 1.

Sources cited
1
DUOX1 is a member of NADPH oxidases with roles in thyroid hormone synthesis, antimicrobial defense, and disease pathophysiology
PMID: 33704512
⚠Limited data available — This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsⓘ20
esophageal diseaseOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.09Suggestive
lung cancerOpen Targets
0.09Suggestive
infectionOpen Targets
0.08Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.08Suggestive
lung adenocarcinomaOpen Targets
0.07Suggestive
cervical cancerOpen Targets
0.07Suggestive
melanomaOpen Targets
0.05Suggestive
emphysemaOpen Targets
0.05Suggestive
hepatocellular carcinomaOpen Targets
0.05Suggestive
cancerOpen Targets
0.04Suggestive
posterior cortical atrophyOpen Targets
0.04Suggestive
heart failureOpen Targets
0.04Suggestive
endocarditisOpen Targets
0.04Suggestive
neuroblastomaOpen Targets
0.04Suggestive
lichen planusOpen Targets
0.03Suggestive
psoriasisOpen Targets
0.03Suggestive
lung carcinomaOpen Targets
0.03Suggestive
Chédiak-Higashi syndromeOpen Targets
0.03Suggestive
asthmaOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NOXO1Protein interaction100%XDHProtein interaction99%NCF1Protein interaction99%CYBAProtein interaction99%CYBBProtein interaction99%NCF2Protein interaction99%
Tissue Expression6 tissues
Lung
100%
Ovary
7%
Heart
4%
Brain
2%
Liver
2%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
DUOX1NOXO1XDHNCF1CYBACYBBNCF2
PROTEIN STRUCTURE
Preparing viewer…
PDB7D3F · 2.30 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.89LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.77 [0.67–0.89]
RankingsWhere DUOX1 stands among ~20K protein-coding genes
  • #5,355of 20,598
    Most Researched89
  • #7,971of 17,882
    Most Constrained (LOEUF)0.89
Genes detectedDUOX1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
PMID: 32425884
Front Endocrinol (Lausanne) · 2020
1.00
2
The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.
PMID: 29650690
Eur J Endocrinol · 2018
0.90
3
Unique DUOX2
PMID: 36759512
Nat Commun · 2023
0.80
4
Biomarkers prediction and immune landscape in ulcerative colitis: Findings based on bioinformatics and machine learning.
PMID: 38070204
Comput Biol Med · 2024
0.70
5
Dual Oxidase System Genes Defects in Children With Congenital Hypothyroidism.
PMID: 33631011
Endocrinology · 2021
0.60