MT-ND1 Chromosome MT
Mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
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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 several diseases, including MELAS syndrome; neurodegenerative disease (multiple); optic nerve disease (multiple); toxic shock syndrome; and type 2 diabetes mellitus. Biomarker of Alzheimer's disease; Parkinson's disease; and multiple sclerosis. [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
ENSG00000198888
Associated Conditions (14)
Leigh syndrome
Intellectual disability
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Mitochondrial disease
See cases
MT-ND1-related disorder
Leber optic atrophy and dystonia
MELAS syndrome
Leber optic atrophy
7 conditions
Primary mitochondrial disorders
MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL TYPE 3
Optic atrophy
Key Variants
RS2854133
Conflicting classifications of pathogenicity
Leigh syndrome, Intellectual disability, Leigh syndrome
Health Risk
RS1603219020
Likely pathogenic
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency, Mitochondrial disease, Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Health Risk
RS1603219126
Likely pathogenic
Mitochondrial disease, See cases, MT-ND1-related disorder
Health Risk
RS199476122
Likely pathogenic
Leber optic atrophy and dystonia, MELAS syndrome, Leber optic atrophy
Health Risk
RS397515507
Likely pathogenic
Leber optic atrophy, Mitochondrial disease, Leber optic atrophy and dystonia
Health Risk
RS587776434
Likely pathogenic
Leigh syndrome, Mitochondrial disease, Primary mitochondrial disorders
Health Risk
RS199476118
Pathogenic
Leber optic atrophy, Leigh syndrome, MITOCHONDRIAL COMPLEX I DEFICIENCY
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2854133 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Intellectual disability, Leigh syndrome |
| RS1603219020 | Health Risk | Likely pathogenic | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency, Mitochondrial disease, Mitochondrial myopathy with reversible cytochrome C oxidase deficiency |
| RS1603219126 | Health Risk | Likely pathogenic | Mitochondrial disease, See cases, MT-ND1-related disorder |
| RS199476122 | Health Risk | Likely pathogenic | Leber optic atrophy and dystonia, MELAS syndrome, Leber optic atrophy |
| RS397515507 | Health Risk | Likely pathogenic | Leber optic atrophy, Mitochondrial disease, Leber optic atrophy and dystonia |
| RS587776434 | Health Risk | Likely pathogenic | Leigh syndrome, Mitochondrial disease, Primary mitochondrial disorders |
| RS199476118 | Health Risk | Pathogenic | Leber optic atrophy, Leigh syndrome, MITOCHONDRIAL COMPLEX I DEFICIENCY |