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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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NDUFB7
NADH:ubiquinone oxidoreductase subunit B7
Chromosome 19 · 19p13.12
NCBI Gene: 4713Ensembl: ENSG00000099795.8HGNC: HGNC:7702UniProt: P17568
48PubMed Papers
21Diseases
3Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
respiratory chain complex INADH dehydrogenase (ubiquinone) activitymitochondrial inner membranemitochondriontype 2 diabetes mellitusdiabetes mellitusParkinson diseaseneurodegenerative disease
✦AI Summary

NDUFB7 is an accessory subunit of mitochondrial Complex I (NADH:ubiquinone oxidoreductase) that functions in the electron transfer chain, facilitating electron transfer from NADH to ubiquinone 1. The protein is N-myristoylated and contains a CHCH domain, both of which are essential for its mitochondrial localization 2. NDUFB7 is critical for Complex I assembly and supercomplex formation 1. Pathogenic NDUFB7 mutations cause mitochondrial Complex I deficiency (nuclear type 39), characterized by severe multi-organ manifestations. Patients with biallelic NDUFB7 mutations present with lactic acidosis, brain abnormalities (pons abnormality, neuronal defects, encephalopathy), hypertrophic cardiomyopathy, growth restriction, and cardiorespiratory defects 13. Zebrafish Ndufb7 knockdown recapitulates these phenotypes, including elevated lactic acid and reduced oxygen consumption 1. Additionally, NDUFB7 upregulation in diabetic retinopathy promotes pathogenic retinal vascular endothelial cell proliferation and reduces apoptosis, regulated by miR-2861 4. NDUFB7 downregulation is also associated with COPD pathogenesis 5. Therapeutically, coenzyme Q10, vitamin B complex, and mitochondrial-targeted antioxidants (MitoQ) ameliorate disease manifestations 1, suggesting potential treatment strategies for Complex I deficiency.

Sources cited
1
NDUFB7 mutations cause Complex I deficiency with lactic acidosis, neuronal defects, and mitochondrial dysfunction; supports therapeutic utility of MitoQ and CoQ10
PMID: 40025060
2
NDUFB7 is N-myristoylated with a CHCH domain essential for mitochondrial localization
PMID: 38151566
3
Intronic NDUFB7 mutations cause severe lactic acidosis, hypertrophic cardiomyopathy, and Complex I defect
PMID: 33502047
4
NDUFB7 upregulation in diabetic retinopathy promotes HRVE cell proliferation and suppresses apoptosis via miR-2861 regulation
PMID: 39170385
5
NDUFB7 downregulation is associated with COPD pathogenesis and immune infiltration
PMID: 40274954
6
NDUFB7 expression is altered in human endometrial cells exposed to phthalates, affecting oxidative phosphorylation capacity
PMID: 38992643
7
NDUFB7 phosphorylation status is associated with mitochondrial permeability transition pore function in cardiac ischemia-reperfusion
PMID: 40536683
Disease Associationsⓘ21
type 2 diabetes mellitusOpen Targets
0.61Moderate
diabetes mellitusOpen Targets
0.60Moderate
Parkinson diseaseOpen Targets
0.57Moderate
neurodegenerative diseaseOpen Targets
0.55Moderate
multiple sclerosisOpen Targets
0.52Moderate
lysosomal storage diseaseOpen Targets
0.51Moderate
Alzheimer diseaseOpen Targets
0.50Moderate
mitochondrial complex I deficiency, nuclear type 39Open Targets
0.43Moderate
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
Mitochondrial complex I deficiency, nuclear type 39UniProt
Pathogenic Variants1
NM_004146.6(NDUFB7):c.113-10C>GLikely pathogenic
Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes|Mitochondrial complex I deficiency, nuclear type 39
★☆☆☆2021
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
NDUFA1Protein interaction100%NDUFA2Protein interaction100%NDUFA3Protein interaction100%NDUFA7Protein interaction100%NDUFA8Protein interaction100%NDUFA10Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Liver
81%
Brain
55%
Lung
40%
Ovary
38%
Bone Marrow
30%
Gene Interaction Network
Click a node to explore
NDUFB7NDUFA1NDUFA2NDUFA3NDUFA7NDUFA8NDUFA10
PROTEIN STRUCTURE
Preparing viewer…
PDB9CWT · 3.44 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.95LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.62 [1.08–1.95]
RankingsWhere NDUFB7 stands among ~20K protein-coding genes
  • #9,104of 20,598
    Most Researched48
  • #667of 1,025
    FDA-Approved Drug Targets2
  • #5,112of 5,498
    Most Pathogenic Variants1
  • #17,634of 17,882
    Most Constrained (LOEUF)1.95
Genes detectedNDUFB7
Sources retrieved10 papers
Response time—
📄 Sources
10â–¼
1
NDUFB7 mutations cause brain neuronal defects, lactic acidosis, and mitochondrial dysfunction in humans and zebrafish.
PMID: 40025060
Cell Death Discov · 2025
1.00
2
Epidemiologically relevant phthalates affect human endometrial cells in vitro through cell specific gene expression changes related to the cytoskeleton and mitochondria.
PMID: 38992643
Reprod Toxicol · 2024
0.90
3
MicroRNA-2861 regulates the proliferation and apoptosis of human retinal vascular endothelial cells treated with high glucose by targeting NDUFB7.
PMID: 39170385
Heliyon · 2024
0.80
4
Characterization of the human complex I NDUFB7 and 17.2-kDa cDNAs and mutational analysis of 19 genes of the HP fraction in complex I-deficient-patients.
PMID: 10830904
Hum Genet · 2000
0.70
5
Protein N-myristoylation plays a critical role in the mitochondrial localization of human mitochondrial complex I accessory subunit NDUFB7.
PMID: 38151566
Sci Rep · 2023
0.60