MT-ND4 Chromosome MT
Mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
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What This Gene Does
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]
Gene Info
Gene Group
"NADH:ubiquinone oxidoreductase core subunits|Mitochondrially encoded protein coding genes"
Locus Type
gene with protein product
Location
mitochondria
Ensembl
ENSG00000198886
Associated Conditions (9)
Mitochondrial complex I deficiency
Leigh syndrome
Leber optic atrophy
Mitochondrial disease
Leber optic atrophy and dystonia
susceptibility to
Retinal dystrophy
Optic atrophy
Primary mitochondrial disorders
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS28384199 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, Leigh syndrome, Leber optic atrophy |
| RS199476112 | Health Risk | Pathogenic | Leber optic atrophy, Mitochondrial disease, susceptibility to |