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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NDUFAB1
NADH:ubiquinone oxidoreductase subunit AB1
Chromosome 16 · 16p12.2
NCBI Gene: 4706Ensembl: ENSG00000004779.11HGNC: HGNC:7694UniProt: O14561
65PubMed Papers
20Diseases
3Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrial large ribosomal subunit assemblymitochondrial inner membranestructural molecule activityprotein lipoylationtype 2 diabetes mellitusdiabetes mellitusParkinson diseaseneurodegenerative disease
✦AI Summary

NDUFAB1 (NADH:ubiquinone oxidoreductase subunit AB1) is a multifunctional mitochondrial protein with dual roles in energy metabolism and iron-sulfur cluster biogenesis. As an accessory subunit of respiratory chain Complex I, NDUFAB1 facilitates electron transfer from NADH to ubiquinone during oxidative phosphorylation 1. Additionally, NDUFAB1 functions as an acyl carrier protein in fatty acid biosynthesis, containing a unique phosphopantetheine attachment site and EF-hand calcium-binding domain 2. NDUFAB1 also serves as a regulatory component of the mitochondrial iron-sulfur cluster (ISC) assembly complex, where it stabilizes the cysteine desulfurase activity of NFS1 and participates in [2Fe-2S] cluster synthesis on ISCU scaffolding protein 3. Clinically, NDUFAB1 dysregulation is associated with multiple malignancies and neurological diseases. Elevated NDUFAB1 expression in hepatocellular carcinoma correlates with poor prognosis and promotes tumor progression through disruption of mitochondrial homeostasis and mitophagy pathways 4. NDUFAB1+ cell populations in gastric cancer exhibit enhanced metabolic reprogramming and immune evasion properties 5. In breast cancer, NDUFAB1 is identified as a key prognostic gene with differential expression between disease and control states 6. Notably, NDUFAB1 expression is significantly reduced in Alzheimer's disease brain tissue, suggesting involvement in neurodegeneration-related mitochondrial dysfunction 7. These findings position NDUFAB1 as both a critical mediator of cellular bioenergetics and a potential therapeutic target across oncologic and neurodegenerative conditions.

Sources cited
1
NDUFAB1 is an acyl carrier protein in fatty acid biosynthesis and an accessory subunit of mitochondrial Complex I involved in NADH-to-ubiquinone electron transfer
PMID: 27626371
2
Human NDUFAB1 contains a phosphopantetheine attachment site characteristic of acyl carrier proteins and an EF-hand calcium-binding domain
PMID: 10234612
3
NDUFAB1 is an accessory protein of the mitochondrial iron-sulfur cluster assembly complex that regulates NFS1 stability and participates in [2Fe-2S] cluster assembly on ISCU
PMID: 31664822
4
NDUFAB1 is elevated in hepatocellular carcinoma and promotes tumor progression by disrupting mitochondrial homeostasis and the mitophagy pathway
PMID: 41106117
5
C1 NDUFAB1+ gastric cancer cell subtype exhibits high proliferative activity, metabolic reprogramming, and immune evasion properties
PMID: 40688093
6
NDUFAB1 shows consistent and significant expression differences between breast cancer and control groups, identifying it as a key prognostic gene
PMID: 39889412
7
NDUFAB1 expression is significantly reduced in Alzheimer's disease brain tissue and was identified as a mitochondria-immune biomarker with diagnostic value
PMID: 39920860
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.61Moderate
diabetes mellitusOpen Targets
0.60Moderate
Parkinson diseaseOpen Targets
0.57Moderate
neurodegenerative diseaseOpen Targets
0.56Moderate
Alzheimer diseaseOpen Targets
0.56Moderate
multiple sclerosisOpen Targets
0.52Moderate
lysosomal storage diseaseOpen Targets
0.49Moderate
polycystic ovary syndromeOpen Targets
0.41Moderate
Insulin resistanceOpen Targets
0.41Moderate
obesityOpen Targets
0.41Moderate
gestational diabetesOpen Targets
0.41Moderate
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
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
BLVRBProtein interaction100%COX6A2Protein interaction100%COX7A1Protein interaction100%COX7BProtein interaction100%DGUOKProtein interaction100%ETFAProtein interaction100%
Tissue Expression6 tissues
Heart
100%
Liver
45%
Brain
41%
Lung
20%
Ovary
16%
Bone Marrow
15%
Gene Interaction Network
Click a node to explore
NDUFAB1BLVRBCOX6A2COX7A1COX7BDGUOKETFA
PROTEIN STRUCTURE
Preparing viewer…
PDB6ODD · 2.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.61LoF Tolerant
pLIⓘ
0.87Intermediate
Observed/Expected LoF0.24 [0.11–0.61]
RankingsWhere NDUFAB1 stands among ~20K protein-coding genes
  • #7,189of 20,598
    Most Researched65
  • #634of 1,025
    FDA-Approved Drug Targets2
  • #4,265of 17,882
    Most Constrained (LOEUF)0.61 · top quartile
Genes detectedNDUFAB1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
ESRRA (estrogen related receptor alpha) is a critical regulator of intestinal homeostasis through activation of autophagic flux via gut microbiota.
PMID: 33172329
Autophagy · 2021
1.00
2
Integrative single-cell and spatial transcriptomics uncover ELK4-mediated mechanisms in
PMID: 40688093
Front Immunol · 2025
0.90
3
NDUFAB1 promotes hepatocellular carcinoma progression by disrupting mitochondrial homeostasis and mitophagy pathway.
PMID: 41106117
Int Immunopharmacol · 2025
0.80
4
Bioinformatics insights into mitochondrial and immune gene regulation in Alzheimer's disease.
PMID: 39920860
Eur J Med Res · 2025
0.70
5
The human nuclear-encoded acyl carrier subunit (NDUFAB1) of the mitochondrial complex I in human pathology.
PMID: 10234612
J Inherit Metab Dis · 1999
0.60