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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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ND1
mitochondrially encoded NADH dehydrogenase 1
Chromosome MT
NCBI Gene: 4535Ensembl: ENSG00000198888.2HGNC: HGNC:7455UniProt: P03886
154PubMed Papers
24Diseases
3Drugs
10Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Trending
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Swiss-Prot Reviewed
Leber hereditary optic neuropathyMELAS syndromemitochondrial diseasemitochondrial complex I deficiency
✦AI Summary

ND1 (mitochondrially encoded NADH dehydrogenase 1) encodes the largest mitochondrially-encoded core subunit of Complex I in the mitochondrial respiratory chain 1. As a vital component of Complex I, ND1 catalyzes electron transfer from NADH through the respiratory chain using ubiquinone as an electron acceptor, playing an essential role in oxidative phosphorylation and ATP synthesis 2. The protein is crucial for both the catalytic activity and proper assembly of Complex I 3. ND1 dysfunction significantly impacts mitochondrial bioenergetics, with mutations leading to impaired Complex I functionality and overall mitochondrial energy production 2. Clinically, ND1 mutations are associated with several serious conditions including Leber hereditary optic neuropathy, where specific mutations like m.3460 G>A cause progressive retinal ganglion cell loss and optic nerve degeneration 34. The gene is also implicated in diabetic cardiomyopathy, where its downregulation contributes to cardiac dysfunction through disrupted mitochondrial genome regulation 2. Additionally, ND1 alterations are widely detected in various cancers and may serve as biomarkers for diagnosis and prognosis 15. Gene therapy approaches using mitochondrially-targeted vectors have shown promise in restoring ND1 function and protecting against disease progression 3.

Sources cited
1
ND1 is the largest mitochondrially-encoded subunit of Complex I and may serve as cancer biomarker
PMID: 37642864
2
ND1 is essential for mitochondrial bioenergetics, ATP synthesis, and Complex I functionality
PMID: 39453425
3
ND1 mutations cause Leber hereditary optic neuropathy and gene therapy can restore function
PMID: 35383288
4
ND1 mutations are associated with Leber hereditary optic neuropathy
PMID: 28035529
5
ND1 mutations are widely detected in cancers and affect mitochondrial functions
PMID: 31944832
Disease Associationsβ“˜24
Leber hereditary optic neuropathyOpen Targets
0.77Strong
MELAS syndromeOpen Targets
0.73Strong
mitochondrial diseaseOpen Targets
0.70Moderate
mitochondrial complex I deficiencyOpen Targets
0.68Moderate
MELASOpen Targets
0.66Moderate
type 2 diabetes mellitusOpen Targets
0.66Moderate
sudden infant death syndromeOpen Targets
0.64Moderate
diabetes mellitusOpen Targets
0.60Moderate
mitochondrial non-syndromic sensorineural hearing lossOpen Targets
0.58Moderate
Leigh syndromeOpen Targets
0.58Moderate
Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposureOpen Targets
0.56Moderate
Mitochondrial non-syndromic sensorineural deafnessOpen Targets
0.50Moderate
MERRFOpen Targets
0.49Moderate
MERRF syndromeOpen Targets
0.49Moderate
External ophthalmoplegiaOpen Targets
0.46Moderate
Alzheimer diseaseOpen Targets
0.46Moderate
Leber plus diseaseOpen Targets
0.45Moderate
Rare genetic deafnessOpen Targets
0.44Moderate
Leigh syndrome, mitochondrialOpen Targets
0.43Moderate
interstitial nephritisOpen Targets
0.42Moderate
Alzheimer disease mitochondrialUniProt
Leber hereditary optic neuropathyUniProt
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndromeUniProt
Type 2 diabetes mellitusUniProt
Pathogenic Variants10
NC_012920.1(MT-ND1):m.3571delLikely pathogenic
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency|Mitochondrial disease
β˜…β˜…β˜…β˜†2024
NC_012920.1(MT-ND1):m.3688G>ALikely pathogenic
Mitochondrial disease|Primary Mitochondrial Disorders
β˜…β˜…β˜…β˜†2023
NC_012920.1(MT-ND1):m.3761C>ALikely pathogenic
Mitochondrial disease|See cases|MT-ND1-related disorder
β˜…β˜…β˜…β˜†2023
NC_012920.1(MT-ND1):m.3460G>APathogenic
Leber optic atrophy|Leigh syndrome|MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3|not provided|Mitochondrial disease|Optic atrophy|Leber optic atrophy and dystonia|Primary Mitochondrial Disorders
β˜…β˜…β˜…β˜†2023
NC_012920.1(MT-ND1):m.3635G>ALikely pathogenic
Leber optic atrophy|Mitochondrial disease|Leber optic atrophy and dystonia|Primary Mitochondrial Disorders
β˜…β˜…β˜…β˜†2022
NC_012920.1(MT-ND1):m.3902_3908invLikely pathogenic
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3|Mitochondrial disease
β˜…β˜…β˜…β˜†2022
NC_012920.1(MT-ND1):m.3890G>ALikely pathogenic
Leigh syndrome|not specified|Mitochondrial disease|Primary Mitochondrial Disorders
β˜…β˜…β˜…β˜†2022
NC_012920.1(MT-ND1):m.3697G>ALikely pathogenic
Leber optic atrophy and dystonia|MELAS syndrome|Leber optic atrophy|Mitochondrial disease|7 conditions
β˜…β˜…β˜…β˜†2022
NC_012920.1(MT-ND1):m.3922G>TLikely pathogenic
Mitochondrial complex I deficiency
β˜…β˜†β˜†β˜†2024
NC_012920.1(MT-ND1):m.3457G>APathogenic
Leigh syndrome
β˜…β˜†β˜†β˜†2024
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
NDUFB5Protein interaction100%NDUFA13Protein interaction100%NDUFC2Protein interaction100%NDUFB3Protein interaction100%NDUFAB1Protein interaction100%NDUFS1Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Liver
71%
Brain
37%
Lung
16%
Ovary
10%
Bone Marrow
9%
Gene Interaction Network
Click a node to explore
ND1NDUFB5NDUFA13NDUFC2NDUFB3NDUFAB1NDUFS1
PROTEIN STRUCTURE
Preparing viewer…
PDB9CWT Β· 3.44 Γ… Β· EM
View on RCSB β†—
RankingsWhere ND1 stands among ~20K protein-coding genes
  • #2,939of 20,598
    Most Researched154 Β· top quartile
  • #574of 1,025
    FDA-Approved Drug Targets2
  • #2,836of 5,498
    Most Pathogenic Variants10
Genes detectedND1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Roles of MT-ND1 in Cancer.
PMID: 37642864
Curr Med Sci Β· 2023
1.00
2
Hereditary Retinal Dystrophy.
PMID: 28035529
Handb Exp Pharmacol Β· 2017
0.90
3
Identification of the core regulatory program driving NEUROD1-induced neuronal reprogramming.
PMID: 40173039
Cell Rep Β· 2025
0.80
4
Leber's hereditary optic neuropathy-associated ND1 3733G>C mutation ameliorates the mitochondrial quality control and cellular homeostasis.
PMID: 40639784
J Biol Chem Β· 2025
0.76
5
Reprogramming Glioblastoma Cells into Non-Cancerous Neuronal Cells as a Novel Anti-Cancer Strategy.
PMID: 38891029
Cells Β· 2024
0.70