MT-ND4L

Chr MT

NADH dehydrogenase subunit 4L

Also known as: MTND4L

NCBI Gene: 4539ENSG00000212907UniProt: P03901

Enables NADH dehydrogenase (ubiquinone) activity. Predicted to be involved in mitochondrial electron transport, NADH to ubiquinone and proton motive force-driven mitochondrial ATP synthesis. Located in mitochondrial inner membrane. Part of respiratory chain complex I. Implicated in Leber hereditary optic neuropathy and diabetes mellitus. [provided by Alliance of Genome Resources, Jul 2025]

Primary Disease Associations & Inheritance

UniProtLeber hereditary optic neuropathy
49
ClinVar variants
18
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— MT-ND4L
🧬
Gene-Disease Validity (ClinGen)
mitochondrial disease · MTLimited

Limited evidence — not for standalone diagnostic reporting

📋
ClinVar Variants
18 Pathogenic / Likely Pathogenic· 14 VUS of 49 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

49 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic15
Likely Pathogenic3
VUS14
Likely Benign11
Benign6
15
Pathogenic
3
Likely Pathogenic
14
VUS
11
Likely Benign
6
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————15
Likely Pathogenic
————3
VUS
————14
Likely Benign
————11
Benign
————6
Total—49

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

MT-ND4L · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
📖
GeneReview available — MT-ND4L
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
First mitochondrial genome-wide association study with metabolomics.
Aboulmaouahib B et al.·Hum Mol Genet
2022
Association of mitochondrial variants and haplogroups identified by whole exome sequencing with Alzheimer's disease.
Zhang X et al.·Alzheimers Dement
2022
Gene Expression Profiling: Identification of Novel Pathways and Potential Biomarkers in Severe Acute Pancreatitis.
Nesvaderani M et al.·J Am Coll Surg
2022
Novel non-neutral mitochondrial DNA mutations found in childhood acute lymphoblastic leukemia.
Järviaho T et al.·Clin Genet
2018
MicroRNA-214 promotes chronic kidney disease by disrupting mitochondrial oxidative phosphorylation.
Bai M et al.·Kidney Int
2019
Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy.
Achilli A et al.·PLoS One
2012
Mitochondrial gene expression profiles are associated with intrahepatic cholestasis of pregnancy.
Mella MT et al.·Placenta
2016
Mitochondrial DNA mutation m.10680G > A is associated with Leber hereditary optic neuropathy in Chinese patients.
Zhang AM et al.·J Transl Med
2012Cohort
Mutations for Leber hereditary optic neuropathy in patients with alcohol and tobacco optic neuropathy.
Amaral-Fernandes MS et al.·Mol Vis
2011Cohort
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.
Caporali L et al.·PLoS Genet
2018Case report
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools