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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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NDUFB3
NADH:ubiquinone oxidoreductase subunit B3
Chromosome 2 Β· 2q33.1
NCBI Gene: 4709Ensembl: ENSG00000119013.11HGNC: HGNC:7698UniProt: O43676
41PubMed Papers
21Diseases
3Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
respiratory chain complex Imitochondrionmitochondrial inner membraneNADH dehydrogenase (ubiquinone) activitymitochondrial complex I deficiency, nuclear type 25mitochondrial complex I deficiencytype 2 diabetes mellitusdiabetes mellitus
✦AI Summary

NDUFB3 is an accessory subunit of mitochondrial Complex I (NADH:ubiquinone oxidoreductase) that plays a critical role in electron transfer from NADH to ubiquinone during aerobic respiration 1. As a structural component essential for Complex I assembly, NDUFB3 regulates both mitochondrial respiration and reactive oxygen species (ROS) production 1. The protein can be post-translationally modified by METTL9-mediated 1-methylhistidine methylation, which enhances Complex I-dependent respiration 2. Clinically, NDUFB3 mutations cause mitochondrial complex I deficiency with variable presentations. The recurrent p.Trp22Arg variant causes a distinctive phenotype of short stature, characteristic facial features (prominent forehead, smooth philtrum, deep-set eyes), and Complex I assembly defects, though prognosis can be favorable in some cases 3. In cancer contexts, NDUFB3 exhibits dual roles: hepatocellular carcinoma cells downregulate NDUFB3 to suppress ROS-induced apoptosis and promote malignant progression 1, while thyroid and gynecological cancers show NDUFB3 upregulation associated with poor prognosis, where increased NDUFB3 elevates mitoROS levels and paradoxically suppresses tumor growth 45. Additionally, higher NDUFB3 gene expression correlates with accelerated lung function decline 6, and NDUFB3 is identified as a key lactylation-promoting gene in rheumatoid arthritis pathogenesis 7.

Sources cited
1
NDUFB3 is a Complex I subunit critical for complex I assembly, regulates ROS production, and is downregulated in hepatocellular carcinoma to maintain ROS homeostasis and promote cell survival
PMID: 38437062
2
METTL9 mediates 1-methylhistidine modification of NDUFB3, and this methylation enhances Complex I respiration
PMID: 33563959
3
Recurrent homozygous p.Trp22Arg NDUFB3 mutation causes short stature, distinctive facial features, and Complex I assembly defects with variable clinical prognosis
PMID: 27091925
4
NDUFB3 expression is associated with mitochondrial ROS levels and patient prognosis in thyroid cancer; NDUFB3 overexpression elevates mitoROS and suppresses tumor growth
PMID: 35087620
5
NDUFB3 is highly expressed in gynecological tumors; its depletion inhibits proliferation and increases ROS production and apoptosis in cancer cells
PMID: 39469770
6
Higher NDUFB3 gene expression is associated with faster 10-year decline in forced expiratory volume (FEV1) in lung function studies
PMID: 34800009
7
NDUFB3 is identified as a core lactylation-promoting gene highly expressed in rheumatoid arthritis and associated with disease pathogenesis
PMID: 39421742
Disease Associationsβ“˜21
mitochondrial complex I deficiency, nuclear type 25Open Targets
0.73Strong
mitochondrial complex I deficiencyOpen Targets
0.63Moderate
type 2 diabetes mellitusOpen Targets
0.61Moderate
diabetes mellitusOpen Targets
0.60Moderate
genetic disorderOpen Targets
0.49Moderate
polycystic ovary syndromeOpen Targets
0.41Moderate
gestational diabetesOpen Targets
0.41Moderate
Insulin resistanceOpen Targets
0.40Moderate
obesityOpen Targets
0.40Weak
prediabetes syndromeOpen Targets
0.40Weak
metabolic syndromeOpen Targets
0.39Weak
type 1 diabetes mellitusOpen Targets
0.39Weak
Disorder of lipid metabolismOpen Targets
0.38Weak
agingOpen Targets
0.37Weak
mitochondrial diseaseOpen Targets
0.37Weak
prostate cancerOpen Targets
0.36Weak
COVID-19Open Targets
0.36Weak
abnormal glucose toleranceOpen Targets
0.36Weak
metabolic diseaseOpen Targets
0.35Weak
Autosomal dominant polycystic kidney diseaseOpen Targets
0.34Weak
Mitochondrial complex I deficiency, nuclear type 25UniProt
Pathogenic Variants5
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg)Pathogenic
not provided|Mitochondrial complex I deficiency|Inborn genetic diseases|Mitochondrial complex I deficiency, nuclear type 25
β˜…β˜…β˜†β˜†2025β†’ Residue 22
NM_002491.3(NDUFB3):c.201del (p.Phe68fs)Likely pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 68
NM_002491.3(NDUFB3):c.61C>T (p.Gln21Ter)Likely pathogenic
Mitochondrial complex I deficiency, nuclear type 25
β˜…β˜†β˜†β˜†2022β†’ Residue 21
NM_002491.3(NDUFB3):c.117del (p.Gly40_Leu41insTer)Pathogenic
Mitochondrial complex I deficiency, nuclear type 25
β˜…β˜†β˜†β˜†2022β†’ Residue 40
NM_002491.3(NDUFB3):c.200del (p.Phe67fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2016β†’ Residue 67
View on ClinVar β†—
Drug Targets3
ME-344Phase I/II
Mitochondrial complex I (NADH dehydrogenase) inhibitor
breast cancer
METFORMINApproved
Mitochondrial complex I (NADH dehydrogenase) inhibitor
diabetes mellitus
METFORMIN HYDROCHLORIDEApproved
Mitochondrial complex I (NADH dehydrogenase) inhibitor
type 2 diabetes mellitus
Related Genes
ATP5MEProtein interaction100%ATP5PFProtein interaction100%BLVRBProtein interaction100%COX6CProtein interaction100%COX7A1Protein interaction100%COX7BProtein interaction100%
Tissue Expression6 tissues
Heart
100%
Brain
59%
Liver
35%
Lung
22%
Bone Marrow
17%
Ovary
12%
Gene Interaction Network
Click a node to explore
NDUFB3ATP5MEATP5PFBLVRBCOX6CCOX7A1COX7B
PROTEIN STRUCTURE
Preparing viewer…
PDB9CWT Β· 3.44 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.46LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.81 [0.48–1.46]
RankingsWhere NDUFB3 stands among ~20K protein-coding genes
  • #10,043of 20,598
    Most Researched41
  • #673of 1,025
    FDA-Approved Drug Targets2
  • #3,593of 5,498
    Most Pathogenic Variants5
  • #14,909of 17,882
    Most Constrained (LOEUF)1.46
Genes detectedNDUFB3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The role of lactylation in plasma cells and its impact on rheumatoid arthritis pathogenesis: insights from single-cell RNA sequencing and machine learning.
PMID: 39421742
Front Immunol Β· 2024
1.00
2
Hepatocellular carcinoma cells downregulate NADH:Ubiquinone Oxidoreductase Subunit B3 to maintain reactive oxygen species homeostasis.
PMID: 38437062
Hepatol Commun Β· 2024
0.90
3
Clinical manifestations and pathogenesis of mitochondrial dysfunction in short stature.
PMID: 40009295
World J Pediatr Β· 2025
0.80
4
Clinical Relevance and Tumor Growth Suppression of Mitochondrial ROS Regulators along NADH:Ubiquinone Oxidoreductase Subunit B3 in Thyroid Cancer.
PMID: 35087620
Oxid Med Cell Longev Β· 2022
0.70
5
Comprehensive Analysis of NADH:Ubiquinone Oxidoreductase Subunit B3 in Gynecological Tumors and Identification of Its Natural Inhibitor Wedelolactone.
PMID: 39469770
Chem Biol Drug Des Β· 2024
0.60