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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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NDUFS5
NADH:ubiquinone oxidoreductase subunit S5
Chromosome 1 · 1p34.3
NCBI Gene: 4725Ensembl: ENSG00000168653.12HGNC: HGNC:7712UniProt: O43920
59PubMed Papers
20Diseases
3Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionrespiratory chain complex Imitochondrial respiratory chain complex I assemblyprotein bindingtype 2 diabetes mellitusdiabetes mellitusParkinson diseaseneurodegenerative disease
✦AI Summary

NDUFS5 is an accessory subunit of mitochondrial Complex I (NADH:ubiquinone oxidoreductase), which catalyzes electron transfer from NADH to ubiquinone in the respiratory chain 1. As a structural component rather than catalytic subunit, NDUFS5 is essential for Complex I assembly and function 2. The protein is ubiquitously expressed across human tissues, with elevated expression in metabolically active organs including heart, skeletal muscle, and liver 1. NDUFS5 import into mitochondria depends on the AIFM1-MIA40/CHCHD4 disulfide relay system; disruption of this pathway causes cytosolic NDUFS5 accumulation, proteasomal degradation, and Complex I assembly failure 2. NDUFS5 dysfunction has been linked to multiple disease states. In Alzheimer's disease, NDUFS5 shows significantly reduced expression in affected individuals and serves as a diagnostic biomarker when combined with other mitochondrial genes 34. Dysregulated NDUFS5 expression has also been identified in glioma and may contribute to tumorigenesis 5. In non-ischemic cardiomyopathy, reduced NDUFS5 expression correlates with improved left ventricular reverse remodeling, suggesting compensatory metabolic adaptation 6. Additionally, NDUFS5 methylation patterns are associated with psychosocial stress and may influence gene expression 7. These associations implicate mitochondrial respiratory dysfunction in neurodegenerative, neoplastic, and cardiovascular pathologies.

Sources cited
1
NDUFS5 is a 15 kDa subunit of Complex I, mapped to chromosome 1, ubiquitously expressed with higher levels in heart, skeletal muscle, liver, and kidney
PMID: 10070614
2
AIFM1 and MIA40/CHCHD4 form a disulfide relay that ensures efficient NDUFS5 import; AIFM1 deficiency causes NDUFS5 cytosolic accumulation, proteasomal degradation, and Complex I assembly stalling
PMID: 35859387
3
NDUFS5 is a mitochondrial-related diagnostic candidate gene for late-onset Alzheimer's disease and mild cognitive impairment, with significantly lower expression in affected groups
PMID: 37334608
4
NDUFS5 is identified as an immune infiltration-related biomarker in Alzheimer's disease with significantly different expression levels between patients and controls
PMID: 37545529
5
NDUFS5 belongs to the NADH ubiquinone oxidoreductase gene family and is identified as a candidate tumor gene biomarker in glioma
PMID: 34863158
6
NDUFS5 expression is associated with DNA methylation sites linked to perceived discrimination, suggesting epigenetic regulation by psychosocial stress
PMID: 39825881
7
NDUFS5 is downregulated in non-ischemic dilated cardiomyopathy patients with left ventricular reverse remodeling and serves as a potential myocardial biomarker
PMID: 32138671
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.61Moderate
diabetes mellitusOpen Targets
0.61Moderate
Parkinson diseaseOpen Targets
0.60Moderate
neurodegenerative diseaseOpen Targets
0.57Moderate
multiple sclerosisOpen Targets
0.55Moderate
Alzheimer diseaseOpen Targets
0.53Moderate
lysosomal storage diseaseOpen Targets
0.53Moderate
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
neuroinflammatory disorderOpen Targets
0.37Weak
prostate cancerOpen Targets
0.36Weak
COVID-19Open Targets
0.36Weak
abnormal glucose toleranceOpen Targets
0.36Weak
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
NDUFA6Protein interaction100%NDUFS8Protein interaction100%ATP5MEProtein interaction100%COX6A1Protein interaction100%COX6A2Protein interaction100%COX6CProtein interaction100%
Tissue Expression6 tissues
Heart
100%
Brain
51%
Liver
32%
Ovary
30%
Lung
26%
Bone Marrow
24%
Gene Interaction Network
Click a node to explore
NDUFS5NDUFA6NDUFS8ATP5MECOX6A1COX6A2COX6C
PROTEIN STRUCTURE
Preparing viewer…
PDB9CWT · 3.44 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.09LoF Tolerant
pLIⓘ
0.03Tolerant
Observed/Expected LoF0.58 [0.33–1.09]
RankingsWhere NDUFS5 stands among ~20K protein-coding genes
  • #7,792of 20,598
    Most Researched59
  • #651of 1,025
    FDA-Approved Drug Targets2
  • #11,127of 17,882
    Most Constrained (LOEUF)1.09
Genes detectedNDUFS5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The human NADH: ubiquinone oxidoreductase NDUFS5 (15 kDa) subunit: cDNA cloning, chromosomal localization, tissue distribution and the absence of mutations in isolated complex I-deficient patients.
PMID: 10070614
J Inherit Metab Dis · 1999
1.00
2
Mitochondria-Related Candidate Genes and Diagnostic Model to Predict Late-Onset Alzheimer's Disease and Mild Cognitive Impairment.
PMID: 37334608
J Alzheimers Dis · 2024
0.90
3
Development of a novel immune infiltration-related diagnostic model for Alzheimer's disease using bioinformatic strategies.
PMID: 37545529
Front Immunol · 2023
0.80
4
Gene biomarker prediction in glioma by integrating scRNA-seq data and gene regulatory network.
PMID: 34863158
BMC Med Genomics · 2021
0.70
5
Epigenome-wide association study of perceived discrimination in the Multi-Ethnic Study of Atherosclerosis (MESA).
PMID: 39825881
Epigenetics · 2025
0.60