MT-ND6 Chromosome MT
Mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
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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. Implicated in Leber hereditary optic neuropathy; Leigh disease; and spinal muscular atrophy with lower extremity predominant 2B. [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
ENSG00000198695
Associated Conditions (15)
MELAS syndrome
Mitochondrial disease
Leber optic atrophy
Leigh syndrome
Primary mitochondrial disorders
Dystonic disorder
Dysarthria
Retinal dystrophy
Optic atrophy
Leber optic atrophy and dystonia
Striatal necrosis
bilateral
with dystonia
Leigh syndrome due to mitochondrial complex I deficiency
Oxyphilic adenoma
Key Variants
RS1603224738
Likely pathogenic
MELAS syndrome, Mitochondrial disease, MELAS syndrome
Health Risk
RS1603224770
Likely pathogenic
Mitochondrial disease, Mitochondrial disease
Health Risk
RS199476106
Likely pathogenic
Leber optic atrophy, Mitochondrial disease, Leber optic atrophy
Health Risk
RS199476107
Likely pathogenic
MELAS syndrome, Leigh syndrome, Mitochondrial disease
Health Risk
RS199476108
Likely pathogenic
Leber optic atrophy, Mitochondrial disease, Leber optic atrophy
Health Risk
RS397515506
Likely pathogenic
Leber optic atrophy, Mitochondrial disease, Leber optic atrophy
Health Risk
RS797045055
Likely pathogenic
Dystonic disorder, Dysarthria, Leigh syndrome
Health Risk
RS199476104
Pathogenic
Leber optic atrophy, Leigh syndrome, Mitochondrial disease
Health Risk
RS199476109
Pathogenic
Striatal necrosis, bilateral, with dystonia
Health Risk
RS869312882
Pathogenic
Oxyphilic adenoma, Oxyphilic adenoma
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1603224738 | Health Risk | Likely pathogenic | MELAS syndrome, Mitochondrial disease, MELAS syndrome |
| RS1603224770 | Health Risk | Likely pathogenic | Mitochondrial disease, Mitochondrial disease |
| RS199476106 | Health Risk | Likely pathogenic | Leber optic atrophy, Mitochondrial disease, Leber optic atrophy |
| RS199476107 | Health Risk | Likely pathogenic | MELAS syndrome, Leigh syndrome, Mitochondrial disease |
| RS199476108 | Health Risk | Likely pathogenic | Leber optic atrophy, Mitochondrial disease, Leber optic atrophy |
| RS397515506 | Health Risk | Likely pathogenic | Leber optic atrophy, Mitochondrial disease, Leber optic atrophy |
| RS797045055 | Health Risk | Likely pathogenic | Dystonic disorder, Dysarthria, Leigh syndrome |
| RS199476104 | Health Risk | Pathogenic | Leber optic atrophy, Leigh syndrome, Mitochondrial disease |
| RS199476109 | Health Risk | Pathogenic | Striatal necrosis, bilateral, with dystonia |
| RS869312882 | Health Risk | Pathogenic | Oxyphilic adenoma, Oxyphilic adenoma |