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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
NDUFC2
NADH:ubiquinone oxidoreductase subunit C2
Chromosome 11 Β· 11q14.1
NCBI Gene: 4718Ensembl: ENSG00000151366.14HGNC: HGNC:7706UniProt: O95298
52PubMed Papers
21Diseases
3Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytoplasmmitochondrionrespiratory chain complex Imitochondrial respiratory chain complex I assemblymitochondrial complex I deficiency, nuclear type 36type 2 diabetes mellitusdiabetes mellitusParkinson disease
✦AI Summary

NDUFC2 encodes an accessory subunit of mitochondrial Complex I (NADH:ubiquinone oxidoreductase) that is essential for proper assembly rather than catalytic activity 1. The protein plays a crucial role in Complex I biogenesis, particularly in assembling the membrane arm and ND2 module of the holoenzyme 1. NDUFC2 deficiency severely impairs mitochondrial function by reducing Complex I assembly and activity, decreasing mitochondrial membrane potential and ATP levels, while increasing reactive oxygen species production 23. This mitochondrial dysfunction has significant disease implications. Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome with stalled Complex I biogenesis 1. The common rs11237379 polymorphism, where the T allele reduces gene expression, associates with increased susceptibility to early-onset ischemic stroke 2, cardiac hypertrophy in hypertensive patients 4, and acute coronary syndrome recurrence 5. NDUFC2 deficiency also exacerbates endothelial-mesenchymal transformation during ischemia-reperfusion through NLRP3 activation 6 and impairs autophagy, contributing to stroke development in hypertensive models 7. These findings establish NDUFC2 as a critical mitochondrial gene whose deficiency predisposes to cardiovascular and neurological diseases through Complex I dysfunction.

Sources cited
1
NDUFC2 is essential for Complex I assembly, particularly the membrane arm and ND2 module, and bi-allelic variants cause Leigh syndrome
PMID: 32969598
2
NDUFC2 deficiency impairs mitochondrial function and the rs11237379 T allele associates with increased early-onset ischemic stroke risk
PMID: 26888427
3
NDUFC2 deficiency causes mitochondrial dysfunction with increased ROS production and structural damage
PMID: 28973657
4
NDUFC2 variants associate with cardiac hypertrophy in hypertensive patients
PMID: 37558995
5
The NDUFC2 rs11237379 TT genotype predicts acute coronary syndrome recurrence
PMID: 35711349
6
NDUFC2 deficiency exacerbates endothelial-mesenchymal transformation via NLRP3 during ischemia-reperfusion
PMID: 37506315
7
NDUFC2 deficiency impairs autophagy and contributes to stroke development in hypertensive models
PMID: 31679456
Disease Associationsβ“˜21
mitochondrial complex I deficiency, nuclear type 36Open Targets
0.71Strong
type 2 diabetes mellitusOpen Targets
0.61Moderate
diabetes mellitusOpen Targets
0.60Moderate
Parkinson diseaseOpen Targets
0.54Moderate
neurodegenerative diseaseOpen Targets
0.53Moderate
multiple sclerosisOpen Targets
0.49Moderate
mitochondrial diseaseOpen Targets
0.47Moderate
Alzheimer diseaseOpen Targets
0.47Moderate
lysosomal storage diseaseOpen Targets
0.46Moderate
polycystic ovary syndromeOpen Targets
0.41Moderate
gestational diabetesOpen Targets
0.41Moderate
Insulin resistanceOpen Targets
0.40Moderate
obesityOpen 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
prostate cancerOpen Targets
0.36Weak
COVID-19Open Targets
0.36Weak
Mitochondrial complex I deficiency, nuclear type 36UniProt
Pathogenic Variants2
NM_004549.6(NDUFC2):c.346_*7del (p.His116fs)Pathogenic
Mitochondrial complex I deficiency, nuclear type 36|Mitochondrial disease
β˜…β˜†β˜†β˜†2020β†’ Residue 116
NM_004549.6(NDUFC2):c.173A>T (p.His58Leu)Pathogenic
Mitochondrial complex I deficiency, nuclear type 36|Mitochondrial disease
β˜…β˜†β˜†β˜†2020β†’ Residue 58
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
COX6B1Protein interaction100%COX7A1Protein interaction100%ND1Protein interaction100%ND2Protein interaction100%ND3Protein interaction100%ND4Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Liver
61%
Heart
28%
Ovary
25%
Lung
21%
Bone Marrow
15%
Gene Interaction Network
Click a node to explore
NDUFC2COX6B1COX7A1ND1ND2ND3ND4
PROTEIN STRUCTURE
Preparing viewer…
PDB9CWT Β· 3.44 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.96LoF Tolerant
pLIβ“˜
0.51Intermediate
Observed/Expected LoF0.31 [0.12–0.96]
RankingsWhere NDUFC2 stands among ~20K protein-coding genes
  • #8,589of 20,598
    Most Researched52
  • #662of 1,025
    FDA-Approved Drug Targets2
  • #4,429of 5,498
    Most Pathogenic Variants2
  • #9,118of 17,882
    Most Constrained (LOEUF)0.96
Genes detectedNDUFC2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Ndufc2 Gene Inhibition Is Associated With Mitochondrial Dysfunction and Increased Stroke Susceptibility in an Animal Model of Complex Human Disease.
PMID: 26888427
J Am Heart Assoc Β· 2016
1.00
2
NDUFC2 deficiency exacerbates endothelial mesenchymal transformation during ischemia-reperfusion via NLRP3.
PMID: 37506315
Neuroreport Β· 2023
0.90
3
Polymorphic variants at NDUFC2, encoding a mitochondrial complex I subunit, associate with cardiac hypertrophy in human hypertension.
PMID: 37558995
Mol Med Β· 2023
0.80
4
In vitro characterization of mitochondrial function and structure in rat and human cells with a deficiency of the NADH: ubiquinone oxidoreductase Ndufc2 subunit.
PMID: 28973657
Hum Mol Genet Β· 2017
0.70
5
Multi-omics Analysis of Energy Metabolism Pathways Across Major Psychiatric Disorders.
PMID: 40498271
Mol Neurobiol Β· 2025
0.60