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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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NDUFA8
NADH:ubiquinone oxidoreductase subunit A8
Chromosome 9 Β· 9q33.2
NCBI Gene: 4702Ensembl: ENSG00000119421.8HGNC: HGNC:7692UniProt: B7Z768
92PubMed Papers
21Diseases
3Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
respiratory chain complex Iprotein bindingmitochondrial inner membranemitochondrionmitochondrial complex I deficiency, nuclear type 37type 2 diabetes mellitusParkinson diseasediabetes mellitus
✦AI Summary

NDUFA8 is a nuclear-encoded accessory subunit of mitochondrial Complex I (NADH:ubiquinone oxidoreductase), localized to the intermembrane surface where it stabilizes the membrane domain 1. As a non-catalytic component, NDUFA8 does not participate directly in electron transfer but is essential for Complex I assembly and stability 234. NDUFA8 is highly expressed in metabolically active tissues including heart and skeletal muscle 5. Mechanistically, NDUFA8 promotes mitochondrial oxidative phosphorylation and ATP production 6. It stabilizes iron-sulfur (Fe-S) clusters critical for Complex I function and other Fe-S-dependent enzymes like aconitase 7. NDUFA8 supports mitochondrial quality control through circadian regulation of mitophagy in cardiac tissue 8. Biallelic NDUFA8 mutations cause mitochondrial Complex I deficiency with variable clinical severity. Patients exhibit developmental delay, microcephaly, and epilepsy, though rare cases show favorable outcomes 34. NDUFA8 upregulation in cervical cancer promotes proliferation and chemotherapy resistance by enhancing mitochondrial respiration, regulated transcriptionally via EP300/H3K27 acetylation 67. Dysregulation of NDUFA8 expression associates with acute myocardial infarction pathogenesis 9.

Sources cited
1
NDUFA8 is a non-catalytic accessory subunit and Complex I transfers electrons from NADH to ubiquinone
PMID: 27626371
2
NDUFA8 mutations cause developmental delay, microcephaly, epilepsy, and Complex I deficiency
PMID: 32385911
3
Biallelic NDUFA8 mutations affect Complex I assembly and cause altered mitochondrial morphology
PMID: 33153867
4
NDUFB7 and NDUFA8 are located at the intermembrane surface of Complex I
PMID: 21310150
5
NDUFA8 is located on chromosome 9 and shows highest expression in heart and skeletal muscle
PMID: 9860297
6
NDUFA8 is involved in circadian regulation of mitochondrial quality control in cardiac myocytes
PMID: 34085589
7
NDUFA8 stabilizes Fe-S clusters and inhibits ferroptosis in cervical cancer
PMID: 40335672
8
NDUFA8 promotes mitochondrial respiration and is regulated by EP300/H3K27ac in cervical cancer
PMID: 38096616
9
NDUFA8 expression is altered in acute myocardial infarction with dynamic expression in cardiomyocytes
PMID: 40619072
Disease Associationsβ“˜21
mitochondrial complex I deficiency, nuclear type 37Open Targets
0.73Strong
type 2 diabetes mellitusOpen Targets
0.61Moderate
Parkinson diseaseOpen Targets
0.60Moderate
diabetes mellitusOpen Targets
0.60Moderate
neurodegenerative diseaseOpen Targets
0.58Moderate
multiple sclerosisOpen Targets
0.55Moderate
Alzheimer diseaseOpen Targets
0.53Moderate
lysosomal storage diseaseOpen Targets
0.53Moderate
neuroinflammatory disorderOpen Targets
0.46Moderate
polycystic ovary syndromeOpen Targets
0.41Moderate
gestational diabetesOpen Targets
0.41Moderate
obesityOpen Targets
0.41Moderate
Insulin resistanceOpen Targets
0.40Moderate
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
developmental disorder of mental healthOpen Targets
0.37Weak
prostate cancerOpen Targets
0.36Weak
Mitochondrial complex I deficiency, nuclear type 37UniProt
Pathogenic Variants3
NM_014222.3(NDUFA8):c.403C>T (p.Arg135Ter)Likely pathogenic
Mitochondrial complex I deficiency, nuclear type 37
β˜…β˜†β˜†β˜†2021β†’ Residue 135
NM_014222.3(NDUFA8):c.139C>T (p.Arg47Cys)Pathogenic
Mitochondrial complex I deficiency, nuclear type 37
β˜†β˜†β˜†β˜†2021β†’ Residue 47
NM_014222.3(NDUFA8):c.293G>T (p.Arg98Leu)Pathogenic
Mitochondrial complex I deficiency, nuclear type 37
β˜†β˜†β˜†β˜†2021β†’ Residue 98
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
NDUFB5Protein interaction100%NDUFC1Protein interaction100%NDUFB8Protein interaction100%NDUFS6Protein interaction100%NDUFB2Protein interaction100%NDUFB7Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Brain
34%
Liver
17%
Lung
10%
Ovary
9%
Bone Marrow
9%
Gene Interaction Network
Click a node to explore
NDUFA8NDUFB5NDUFC1NDUFB8NDUFS6NDUFB2NDUFB7
PROTEIN STRUCTURE
Preparing viewer…
PDB9CWT Β· 3.44 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.11LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.70 [0.45–1.11]
RankingsWhere NDUFA8 stands among ~20K protein-coding genes
  • #5,202of 20,598
    Most Researched92
  • #609of 1,025
    FDA-Approved Drug Targets2
  • #3,998of 5,498
    Most Pathogenic Variants3
  • #11,340of 17,882
    Most Constrained (LOEUF)1.11
Genes detectedNDUFA8
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Mitochondrial autophagy and cell survival is regulated by the circadian
PMID: 34085589
Autophagy Β· 2021
1.00
2
Transcriptomic and single-cell insights into mitochondrial genes NDUFA8, ECI2, and ACADM in acute myocardial infarction.
PMID: 40619072
Gene Β· 2025
0.90
3
NDUFA8 promotes cell viability and inhibits ferroptosis and cisplatin sensitivity by stabilizing Fe-S clusters in cervical cancer.
PMID: 40335672
Naunyn Schmiedebergs Arch Pharmacol Β· 2025
0.80
4
The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8 subunit: cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patients.
PMID: 9860297
Hum Genet Β· 1998
0.70
5
NDUFA8 is transcriptionally regulated by EP300/H3K27ac and promotes mitochondrial respiration to support proliferation and inhibit apoptosis in cervical cancer.
PMID: 38096616
Biochem Biophys Res Commun Β· 2024
0.60