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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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NDUFB8
NADH:ubiquinone oxidoreductase subunit B8
Chromosome 10 Β· 10q24.31
NCBI Gene: 4714Ensembl: ENSG00000166136.18HGNC: HGNC:7703UniProt: O95169
62PubMed Papers
21Diseases
3Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrial inner membranemitochondrionrespiratory chain complex Iproton motive force-driven mitochondrial ATP synthesismitochondrial complex I deficiency, nuclear type 32mitochondrial complex I deficiencytype 2 diabetes mellitusdiabetes mellitus
✦AI Summary

NDUFB8 (NADH:ubiquinone oxidoreductase subunit B8) is an accessory subunit of mitochondrial respiratory complex I that plays crucial roles in oxidative phosphorylation and cellular energy metabolism 1. As a component of complex I, NDUFB8 participates in the electron transport chain, facilitating NADH oxidation and contributing to ATP synthesis through oxidative phosphorylation 23. The protein localizes to the mitochondrial inner membrane and is essential for proper complex I assembly and function 4. NDUFB8 expression serves as a biomarker in various pathological contexts, including cancer prognosis and treatment response. In pancreatic ductal adenocarcinoma, NDUFB8 levels predict sensitivity to adjuvant chemotherapy 5. In renal cell carcinoma, high NDUFB8 expression correlates with immune checkpoint inhibitor resistance by promoting a hypoxic tumor microenvironment that impairs T-cell function 3. Similarly, in African American bladder cancer patients, elevated NDUFB8 drives glutamine-mediated metabolic reprogramming and increased disease progression 2. The gene is associated with mitochondrial complex I deficiency when mutated 1, and its expression is regulated during cellular stress responses, including autophagy and mitochondrial quality control mechanisms 67. NDUFB8 also shows cardioprotective potential, with its upregulation contributing to protection against myocardial ischemia-reperfusion injury 4.

Sources cited
1
NDUFB8 is identified as a mitochondrial disorder-related gene and potential candidate gene for complex I deficiency
PMID: 27290639
2
NDUFB8 drives elevated oxidative phosphorylation in African American bladder cancer patients and promotes glutamine-mediated metabolic reprogramming
PMID: 39253977
3
High NDUFB8 expression correlates with immune checkpoint inhibitor resistance in renal cell carcinoma by creating hypoxic tumor microenvironment
PMID: 38355278
4
NDUFB8 serves as a biomarker for predicting sensitivity to adjuvant chemotherapy in pancreatic ductal adenocarcinoma
PMID: 38287168
5
NDUFB8 expression is upregulated by curcumin pretreatment and contributes to cardioprotection against ischemia-reperfusion injury
PMID: 39364745
6
NDUFB8 is involved in mitochondrial quality control and autophagy-mediated mtDNA segregation
PMID: 35220898
7
NDUFB8 is a mitochondrial protein detected in extracellular release mechanisms during mitochondrial quality control
PMID: 33218272
Disease Associationsβ“˜21
mitochondrial complex I deficiency, nuclear type 32Open Targets
0.71Strong
mitochondrial complex I deficiencyOpen Targets
0.65Moderate
type 2 diabetes mellitusOpen Targets
0.63Moderate
diabetes mellitusOpen Targets
0.62Moderate
neurodegenerative diseaseOpen Targets
0.52Moderate
obesityOpen Targets
0.44Moderate
metabolic syndromeOpen Targets
0.43Moderate
polycystic ovary syndromeOpen Targets
0.42Moderate
gestational diabetesOpen Targets
0.41Moderate
Insulin resistanceOpen Targets
0.41Moderate
prediabetes syndromeOpen Targets
0.40Weak
type 1 diabetes mellitusOpen Targets
0.39Weak
Disorder of lipid metabolismOpen Targets
0.38Weak
agingOpen Targets
0.37Weak
mitochondrial complex I deficiency, nuclear type 1Open 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 32UniProt
Pathogenic Variants4
NM_005004.4(NDUFB8):c.358del (p.Ser120fs)Likely pathogenic
Mitochondrial complex I deficiency, nuclear type 32
β˜…β˜†β˜†β˜†2022β†’ Residue 120
NM_005004.4(NDUFB8):c.227C>A (p.Pro76Gln)Pathogenic
Mitochondrial complex I deficiency, nuclear type 32
β˜†β˜†β˜†β˜†2018β†’ Residue 76
NM_005004.4(NDUFB8):c.432C>G (p.Cys144Trp)Pathogenic
Mitochondrial complex I deficiency, nuclear type 32
β˜†β˜†β˜†β˜†2018β†’ Residue 144
NM_005004.4(NDUFB8):c.184T>C (p.Tyr62His)Pathogenic
Mitochondrial complex I deficiency, nuclear type 32
β˜†β˜†β˜†β˜†2018β†’ Residue 62
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%NDUFA10Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Brain
86%
Liver
59%
Ovary
39%
Lung
32%
Bone Marrow
31%
Gene Interaction Network
Click a node to explore
NDUFB8NDUFA1NDUFA2NDUFA3NDUFA7NDUFA8NDUFA10
PROTEIN STRUCTURE
Preparing viewer…
PDB9CWT Β· 3.44 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.94LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.62 [0.43–0.94]
RankingsWhere NDUFB8 stands among ~20K protein-coding genes
  • #7,483of 20,598
    Most Researched62
  • #644of 1,025
    FDA-Approved Drug Targets2
  • #3,780of 5,498
    Most Pathogenic Variants4
  • #8,706of 17,882
    Most Constrained (LOEUF)0.94
Genes detectedNDUFB8
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Prospective observational study on biomarkers of response in pancreatic ductal adenocarcinoma.
PMID: 38287168
Nat Med Β· 2024
1.00
2
Autophagy deficiency abolishes liver mitochondrial DNA segregation.
PMID: 35220898
Autophagy Β· 2022
0.90
3
Alternative mitochondrial quality control mediated by extracellular release.
PMID: 33218272
Autophagy Β· 2021
0.80
4
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
PMID: 27290639
J Transl Med Β· 2016
0.70
5
Curcumin pretreatment attenuates myocardial ischemia/reperfusion injury by inhibiting ferroptosis, autophagy and apoptosis via HES1.
PMID: 39364745
Int J Mol Med Β· 2024
0.60