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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ND3
mitochondrially encoded NADH dehydrogenase 3
Chromosome MT
NCBI Gene: 4537Ensembl: ENSG00000198840.2HGNC: HGNC:7458UniProt: P03897
60PubMed Papers
22Diseases
3Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
✓ Swiss-Prot Reviewed
Leigh syndromemitochondrial complex I deficiencymitochondrial diseasetype 2 diabetes mellitus
✦AI Summary

ND3 (mitochondrially encoded NADH dehydrogenase 3) is a core subunit of mitochondrial respiratory Complex I that catalyzes electron transfer from NADH through the respiratory chain using ubiquinone as an electron acceptor, and is essential for Complex I catalytic activity 1. The gene encodes a mitochondria-transcribed mRNA that can be targeted by disease-associated proteins like TDP-43, which binds ND3 mRNA and impairs its expression, leading to Complex I disassembly and mitochondrial dysfunction in neurodegenerative diseases 2. ND3 variants cause severe mitochondrial disorders including Leigh syndrome and Leber hereditary optic neuropathy, with mutations like m.10197G>C significantly reducing MT-ND3 protein levels, Complex I assembly and activity, and ATP synthesis 3. The m.10197G>A mutation shows age-dependent phenotypic presentation, with earlier onset correlating with Leigh syndrome and later onset with optic neuropathy 4. ND3 expression levels show sexual dimorphism in human spinal cord oligodendrocytes, being higher in females than males 5. Therapeutic approaches include allotopic expression of codon-optimized ND3 that can partially restore protein levels and ATP production in patient cells 3.

Sources cited
1
ND3 is essential for Complex I catalytic activity and catalyzes electron transfer using ubiquinone
PMID: 25118196
2
TDP-43 binds ND3 mRNA and impairs its expression, causing Complex I disassembly in neurodegeneration
PMID: 27348499
3
ND3 variants reduce protein levels, Complex I activity, and ATP synthesis; allotopic expression can restore function
PMID: 38437941
4
m.10197G>A mutation shows age-dependent phenotypes from Leigh syndrome to optic neuropathy
PMID: 39923090
5
ND3 expression is higher in females than males in human spinal cord oligodendrocytes
PMID: 38934400
Disease Associationsⓘ22
Leigh syndromeOpen Targets
0.73Strong
mitochondrial complex I deficiencyOpen Targets
0.69Moderate
mitochondrial diseaseOpen Targets
0.67Moderate
type 2 diabetes mellitusOpen Targets
0.61Moderate
diabetes mellitusOpen Targets
0.61Moderate
MELAS syndromeOpen Targets
0.56Moderate
Isolated cytochrome C oxidase deficiencyOpen Targets
0.52Moderate
leigh syndrome due to mitochondrial complex iv deficiencyOpen Targets
0.52Moderate
MERRFOpen Targets
0.49Moderate
MERRF syndromeOpen Targets
0.49Moderate
Mitochondrial myopathyOpen Targets
0.48Moderate
inborn mitochondrial myopathyOpen Targets
0.47Moderate
mitochondrial non-syndromic sensorineural hearing lossOpen Targets
0.47Moderate
mitochondrial complex I deficiency, mitochondrial type 1Open Targets
0.46Moderate
maternally-inherited Leigh syndromeOpen Targets
0.45Moderate
Leber plus diseaseOpen Targets
0.45Moderate
Kearns-Sayre syndromeOpen Targets
0.45Moderate
Mitochondrial encephalopathyOpen Targets
0.42Moderate
Pearson syndromeOpen Targets
0.42Moderate
polycystic ovary syndromeOpen Targets
0.41Moderate
Leigh syndromeUniProt
Mitochondrial complex I deficiency, mitochondrial type 1UniProt
Pathogenic Variants5
NC_012920.1(MT-ND3):m.10254G>ALikely pathogenic
Leigh syndrome|Mitochondrial disease
★★★☆2023
NC_012920.1(MT-ND3):m.10191T>CPathogenic
Mitochondrial complex I deficiency, mitochondrial type 1|Leigh syndrome|Mitochondrial complex I deficiency|Mitochondrial disease|Primary Mitochondrial Disorders
★★★☆2022
NC_012920.1(MT-ND3):m.10197G>APathogenic
Leber optic atrophy and dystonia|Mitochondrial complex I deficiency, mitochondrial type 1|Leigh syndrome|not provided|Mitochondrial DNA-Associated Leigh Syndrome and NARP|not specified|Mitochondrial disease|See cases|Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy|Primary Mitochondrial Disorders
★★★☆2022
NC_012920.1(MT-ND3):m.10158T>CPathogenic
Mitochondrial complex I deficiency, mitochondrial type 1|Leigh syndrome|not provided|Mitochondrial disease
★★★☆2021
NC_012920.1(MT-ND3):m.10125dupLikely pathogenic
Primary Mitochondrial Disorders
★☆☆☆2025
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
NDUFB5Protein interaction100%NDUFA13Protein interaction100%NDUFC2Protein interaction100%NDUFB3Protein interaction100%NDUFAB1Protein interaction100%NDUFS1Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Liver
72%
Brain
44%
Ovary
14%
Lung
12%
Bone Marrow
8%
Gene Interaction Network
Click a node to explore
ND3NDUFB5NDUFA13NDUFC2NDUFB3NDUFAB1NDUFS1
PROTEIN STRUCTURE
Preparing viewer…
PDB9CWT · 3.44 Å · EM
View on RCSB ↗
RankingsWhere ND3 stands among ~20K protein-coding genes
  • #7,688of 20,598
    Most Researched60
  • #646of 1,025
    FDA-Approved Drug Targets2
  • #3,565of 5,498
    Most Pathogenic Variants5
Genes detectedND3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The inhibition of TDP-43 mitochondrial localization blocks its neuronal toxicity.
PMID: 27348499
Nat Med · 2016
1.00
2
Spatial transcriptomics combined with single-nucleus RNA sequencing reveals glial cell heterogeneity in the human spinal cord.
PMID: 38934400
Neural Regen Res · 2025
0.90
3
The Role of Mitochondria in Carcinogenesis.
PMID: 34065857
Int J Mol Sci · 2021
0.80
4
MSCs-EVs harboring OA immune memory reprogram macrophage phenotype via modulation of the mt-ND3/NADH-CoQ axis for OA treatment.
PMID: 40001168
J Nanobiotechnology · 2025
0.70
5
Identification of a novel MT-ND3 variant and restoring mitochondrial function by allotopic expression of MT-ND3 gene.
PMID: 38437941
Mitochondrion · 2024
0.60