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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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NDUFA10
NADH:ubiquinone oxidoreductase subunit A10
Chromosome 2 Β· 2q37.3
NCBI Gene: 4705Ensembl: ENSG00000130414.13HGNC: HGNC:7684UniProt: A0A7I2V438
120PubMed Papers
21Diseases
3Drugs
8Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrionmitochondrial inner membranerespiratory chain complex INADH dehydrogenase (ubiquinone) activitymitochondrial complex I deficiency, nuclear type 22mitochondrial complex I deficiencyLeigh syndrometype 2 diabetes mellitus
✦AI Summary

NDUFA10 is an accessory subunit of mitochondrial respiratory complex I that facilitates electron transfer from NADH to ubiquinone in the electron transport chain 1. Beyond its structural role in complex I assembly, NDUFA10 contains a deoxyribonucleoside kinase domain that binds the majority of mitochondrial dGTP under physiological conditions, potentially linking oxidative metabolism to DNA maintenance 2. NDUFA10 expression correlates with cognitive function in Alzheimer's disease patients, with reduced expression associated with increased dementia severity 3. The protein interacts with neuroprotective factors like neuroglobin to preserve complex I activity and prevent neuronal apoptosis in Parkinson's disease models 4. NDUFA10 also interacts with acylglycerol kinase to maintain hepatic mitochondrial function and prevent non-alcoholic steatohepatitis progression 1. Biallelic variants in NDUFA10 cause mitochondrial complex I deficiency manifesting as optic atrophy and associated neurological syndromes 5, while altered NDUFA10 expression serves as a prognostic marker in prostate cancer and obstructive sleep apnea syndrome 67. In Parkinson's disease, NDUFA10 restoration rescues complex I activity independently of mitophagy pathways 8.

Sources cited
1
NDUFA10 interacts with AGK to maintain mitochondrial respiratory chain complex I function in hepatic cells
PMID: 35547757
2
NDUFA10 dNK domain binds the majority of mitochondrial dGTP, linking oxidative metabolism to DNA maintenance
PMID: 35739187
3
NDUFA10 expression correlates with cognitive function and dementia severity in Alzheimer's disease
PMID: 37373264
4
NDUFA10 interacts with neuroglobin to preserve complex I activity and prevent dopaminergic neuronal apoptosis
PMID: 39454716
5
Biallelic variants in NDUFA10 cause mitochondrial complex I deficiency presenting as optic atrophy
PMID: 41234160
6
NDUFA10 shows low expression in prostate cancer and serves as an unfavorable prognostic marker
PMID: 34124242
7
NDUFA10 is associated with obstructive sleep apnea syndrome and has diagnostic potential
PMID: 40311297
8
NDUFA10 restoration rescues complex I activity in PINK1 mutants through a mitophagy-independent mechanism
PMID: 25412178
Disease Associationsβ“˜21
mitochondrial complex I deficiency, nuclear type 22Open Targets
0.68Moderate
mitochondrial complex I deficiencyOpen Targets
0.68Moderate
Leigh syndromeOpen Targets
0.67Moderate
type 2 diabetes mellitusOpen Targets
0.61Moderate
diabetes mellitusOpen Targets
0.60Moderate
mitochondrial diseaseOpen Targets
0.55Moderate
genetic disorderOpen Targets
0.47Moderate
neurodegenerative diseaseOpen Targets
0.42Moderate
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
Parkinson diseaseOpen Targets
0.38Weak
Disorder of lipid metabolismOpen Targets
0.38Weak
agingOpen Targets
0.37Weak
prostate cancerOpen Targets
0.36Weak
COVID-19Open Targets
0.36Weak
Mitochondrial complex I deficiency, nuclear type 22UniProt
Pathogenic Variants8
NM_004544.4(NDUFA10):c.415C>T (p.Arg139Cys)Likely pathogenic
not provided|Mitochondrial complex I deficiency, nuclear type 22
β˜…β˜…β˜†β˜†2024β†’ Residue 139
NM_004544.4(NDUFA10):c.890T>C (p.Leu297Pro)Likely pathogenic
Mitochondrial complex I deficiency, nuclear type 22
β˜…β˜†β˜†β˜†2024β†’ Residue 297
NM_004544.4(NDUFA10):c.1A>G (p.Met1Val)Likely pathogenic
Mitochondrial complex I deficiency, nuclear type 22
β˜…β˜†β˜†β˜†2022β†’ Residue 1
NM_004544.4(NDUFA10):c.296G>A (p.Gly99Glu)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 99
NM_004544.4(NDUFA10):c.548-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2017
NM_004544.4(NDUFA10):c.881T>C (p.Leu294Pro)Pathogenic
Mitochondrial complex I deficiency, nuclear type 22
β˜†β˜†β˜†β˜†2021β†’ Residue 294
NM_004544.4(NDUFA10):c.384_385insAAT (p.Ser128_Tyr129insAsn)Pathogenic
Mitochondrial complex I deficiency, nuclear type 22
β˜†β˜†β˜†β˜†2021β†’ Residue 128
NM_004544.4(NDUFA10):c.425A>G (p.Gln142Arg)Pathogenic
Mitochondrial complex I deficiency, nuclear type 22
β˜†β˜†β˜†β˜†2011β†’ Residue 142
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
NDUFA1Protein interaction100%NDUFA2Protein interaction100%NDUFA3Protein interaction100%NDUFA7Protein interaction100%NDUFA8Protein interaction100%NDUFB5Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Liver
51%
Ovary
42%
Brain
33%
Bone Marrow
32%
Lung
29%
Gene Interaction Network
Click a node to explore
NDUFA10NDUFA1NDUFA2NDUFA3NDUFA7NDUFA8NDUFB5
PROTEIN STRUCTURE
Preparing viewer…
PDB5XTC Β· 3.70 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.12LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.84 [0.64–1.12]
RankingsWhere NDUFA10 stands among ~20K protein-coding genes
  • #3,930of 20,598
    Most Researched120 Β· top quartile
  • #585of 1,025
    FDA-Approved Drug Targets2
  • #3,048of 5,498
    Most Pathogenic Variants8
  • #11,536of 17,882
    Most Constrained (LOEUF)1.12
Genes detectedNDUFA10
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
AGK regulates the progression to NASH by affecting mitochondria complex I function.
PMID: 35547757
Theranostics Β· 2022
1.00
2
Neuroglobin protects dopaminergic neurons in a Parkinson's cell model by interacting with mitochondrial complex NDUFA10.
PMID: 39454716
Neuroscience Β· 2024
0.90
3
An Exploration of the Coherent Effects between METTL3 and NDUFA10 on Alzheimer's Disease.
PMID: 37373264
Int J Mol Sci Β· 2023
0.80
4
Most mitochondrial dGTP is tightly bound to respiratory complex I through the NDUFA10 subunit.
PMID: 35739187
Commun Biol Β· 2022
0.70
5
Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophy.
PMID: 41234160
Brain Β· 2025
0.60