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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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NDUFA3
NADH:ubiquinone oxidoreductase subunit A3
Chromosome 19 · 19q13.42
NCBI Gene: 4696Ensembl: ENSG00000170906.17HGNC: HGNC:7686UniProt: O95167
31PubMed Papers
20Diseases
3Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
respiratory chain complex Iprotein bindingmitochondrial inner membranemitochondriontype 2 diabetes mellitusdiabetes mellituspolycystic ovary syndromegestational diabetes
✦AI Summary

NDUFA3 is a supernumerary accessory subunit of mitochondrial respiratory chain Complex I (NADH dehydrogenase) required for proper assembly and function of the electron-transferring Q module in the peripheral arm 1. While not directly involved in catalysis, NDUFA3 is essential for transferring electrons from NADH to ubiquinone and maintaining the proton motive force for ATP synthesis [UniProt]. Loss of NDUFA3 expression impairs mitochondrial function, increasing reactive oxygen species production, reducing oxygen consumption rates, and decreasing mitochondrial membrane potential 2. Clinically, NDUFA3 mutations cause Leigh syndrome, a severe early-onset mitochondrial disorder presenting with motor developmental delay, muscle tone abnormalities, and characteristic basal ganglia/brainstem lesions 34. NDUFA3 expression is suppressed during sepsis through S100A8/A9-mediated downregulation of Nrf1, contributing to endothelial dysfunction and PANoptosis 5. In diabetes-induced intervertebral disc degeneration, HDAC/H3K27ac-mediated NDUFA3 transcription upregulation protects nucleus pulposus cells by restoring mitochondrial oxidative phosphorylation 2. Additionally, NDUFA3 is part of a validated 5-gene peripheral blood signature predicting immunotherapy response in non-small cell lung cancer 6.

Sources cited
1
NDUFA3 is a supernumerary subunit required for assembly and stability of the electron transferring Q module in the peripheral arm of Complex I
PMID: 24717771
2
NDUFA3 overexpression improves mitochondrial function, cell viability, ROS production, and membrane potential in high glucose-treated cells
PMID: 39256449
3
NDUFA3 mutations cause Leigh syndrome with early-onset motor developmental delay and basal ganglia/brainstem lesions
PMID: 39661167
4
Intronic NDUFA3 variants cause Leigh syndrome with splicing abnormalities; wild-type NDUFA3 overexpression restores mitochondrial function in patient fibroblasts
PMID: 41404351
5
S100A8/A9 suppresses NDUFA3 expression via Nrf1 downregulation during sepsis, contributing to endothelial dysfunction
PMID: 38942784
6
NDUFA3 is part of a 5-gene signature predicting immunotherapy response in non-small cell lung cancer with high accuracy
PMID: 39506771
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.61Moderate
diabetes mellitusOpen Targets
0.60Moderate
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
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
colorectal cancerOpen Targets
0.33Weak
breast cancerOpen Targets
0.33Weak
chronic kidney diseaseOpen Targets
0.32Weak
Parkinson diseaseOpen Targets
0.31Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
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
NDUFB5Protein interaction100%NDUFC1Protein interaction100%NDUFB8Protein interaction100%NDUFS6Protein interaction100%NDUFB2Protein interaction100%NDUFB7Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Liver
75%
Brain
52%
Lung
42%
Ovary
39%
Bone Marrow
28%
Gene Interaction Network
Click a node to explore
NDUFA3NDUFB5NDUFC1NDUFB8NDUFS6NDUFB2NDUFB7
PROTEIN STRUCTURE
Preparing viewer…
PDB9CWT · 3.44 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.47LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.87 [0.53–1.47]
RankingsWhere NDUFA3 stands among ~20K protein-coding genes
  • #11,752of 20,598
    Most Researched31
  • #686of 1,025
    FDA-Approved Drug Targets2
  • #14,961of 17,882
    Most Constrained (LOEUF)1.47
Genes detectedNDUFA3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
S100A8/A9
PMID: 38942784
Cell Death Dis · 2024
1.00
2
HDAC/H3K27ac-mediated transcription of NDUFA3 exerts protective effects on high glucose-treated human nucleus pulposus cells through improving mitochondrial function.
PMID: 39256449
Sci Rep · 2024
0.90
3
A prospective multi-cohort study identifies and validates a 5-gene peripheral blood signature predictive of immunotherapy response in non-small cell lung cancer.
PMID: 39506771
Mol Cancer · 2024
0.80
4
Supernumerary subunits NDUFA3, NDUFA5 and NDUFA12 are required for the formation of the extramembrane arm of human mitochondrial complex I.
PMID: 24717771
FEBS Lett · 2014
0.70
5
Identification of a novel pathogenic gene, NDUFA3, in Leigh Syndrome through whole exome sequencing.
PMID: 39661167
Neurogenetics · 2024
0.60