MT-ND4

Chr MT

NADH dehydrogenase subunit 4

Also known as: MTND4

NCBI Gene: 4538ENSG00000198886UniProt: P03905

Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone and mitochondrial respiratory chain complex I assembly. Located in mitochondrial inner membrane. Part of respiratory chain complex I. Implicated in Leber hereditary optic neuropathy; Parkinson's disease; macular degeneration; and schizophrenia. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Jul 2025]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtLeber hereditary optic neuropathy
UniProtLeber hereditary optic neuropathy with dystonia
UniProtMitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome

Clinical highlights

Gene-disease validity (ClinGen)
mitochondrial disease · MTDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total
0
Active trials
49
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
—
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — MT-ND4
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MT-ND4 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients