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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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NDUFB6
NADH:ubiquinone oxidoreductase subunit B6
Chromosome 9 · 9p21.1
NCBI Gene: 4712Ensembl: ENSG00000165264.11HGNC: HGNC:7701UniProt: A0A087WZX2
60PubMed 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 mellitusneurodegenerative diseaseParkinson disease
✦AI Summary

NDUFB6 is an accessory subunit of mitochondrial respiratory chain Complex I that plays a critical role in electron transport and cellular energy metabolism. The protein functions as part of the NADH:ubiquinone oxidoreductase complex, facilitating electron transfer from NADH to ubiquinone in the mitochondrial electron transport chain 1. Experimental evidence demonstrates that NDUFB6 is essential for Complex I activity, as its specific knockdown significantly reduces mitochondrial respiration and electron transfer capacity 1. The gene shows decreased expression in skeletal muscle of diabetic patients and is influenced by genetic, epigenetic, and age-related factors 2. A promoter polymorphism (rs629566) interacts with DNA methylation to affect NDUFB6 expression in an age-dependent manner, with implications for insulin sensitivity 2. Clinical studies reveal that NDUFB6 polymorphisms modify exercise-induced metabolic adaptations in diabetes patients 3. The gene is downregulated in various disease contexts, including myotonic dystrophy type 2, where reduced NDUFB6 expression correlates with mitochondrial dysfunction 4, and gastric cancer, where decreased expression associates with tumor invasion and metastasis 5. These findings establish NDUFB6 as a critical component of mitochondrial bioenergetics with significant implications for metabolic disorders and cancer progression.

Sources cited
1
The protein functions as part of the NADH:ubiquinone oxidoreductase complex, facilitating electron transfer from NADH to ubiquinone in the mitochondrial electron transport chain .
PMID: 21964293
2
The gene shows decreased expression in skeletal muscle of diabetic patients and is influenced by genetic, epigenetic, and age-related factors .
PMID: 17948130
3
Clinical studies reveal that NDUFB6 polymorphisms modify exercise-induced metabolic adaptations in diabetes patients .
PMID: 34659107
4
The gene is downregulated in various disease contexts, including myotonic dystrophy type 2, where reduced NDUFB6 expression correlates with mitochondrial dysfunction , and gastric cancer, where decreased expression associates with tumor invasion and metastasis .
PMID: 38240888
5
The gene is downregulated in various disease contexts, including myotonic dystrophy type 2, where reduced NDUFB6 expression correlates with mitochondrial dysfunction , and gastric cancer, where decreased expression associates with tumor invasion and metastasis .
PMID: 29992774
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.62Moderate
diabetes mellitusOpen Targets
0.60Moderate
neurodegenerative diseaseOpen Targets
0.56Moderate
Parkinson diseaseOpen Targets
0.45Moderate
polycystic ovary syndromeOpen Targets
0.41Moderate
gestational diabetesOpen Targets
0.41Moderate
Insulin resistanceOpen Targets
0.41Moderate
obesityOpen Targets
0.40Weak
multiple sclerosisOpen 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
Alzheimer diseaseOpen Targets
0.37Weak
lysosomal storage 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
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
NDUFV1Protein interaction100%NDUFV3Protein interaction100%ATP5PFProtein interaction100%COX6A2Protein interaction100%COX6B1Protein interaction100%COX7A1Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Brain
66%
Liver
49%
Lung
26%
Ovary
22%
Bone Marrow
20%
Gene Interaction Network
Click a node to explore
NDUFB6NDUFV1NDUFV3ATP5PFCOX6A2COX6B1COX7A1
PROTEIN STRUCTURE
Preparing viewer…
PDB9CWT · 3.44 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.93LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.48 [0.90–1.93]
RankingsWhere NDUFB6 stands among ~20K protein-coding genes
  • #7,689of 20,598
    Most Researched60
  • #647of 1,025
    FDA-Approved Drug Targets2
  • #17,442of 17,882
    Most Constrained (LOEUF)1.93
Genes detectedNDUFB6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetic and epigenetic factors are associated with expression of respiratory chain component NDUFB6 in human skeletal muscle.
PMID: 17948130
J Clin Invest · 2007
1.00
2
Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 2.
PMID: 38240888
Acta Neuropathol · 2024
0.90
3
The NDUFB6 subunit of the mitochondrial respiratory chain complex I is required for electron transfer activity: a proof of principle study on stable and controlled RNA interference in human cell lines.
PMID: 21964293
Biochem Biophys Res Commun · 2011
0.80
4
PMID: 34659107
Front Endocrinol (Lausanne) · 2021
0.70
5
A study of Titanium and Magnesium particle-induced oxidative stress and toxicity to human osteoblasts.
PMID: 32919646
Mater Sci Eng C Mater Biol Appl · 2020
0.60