MT-ND5 Chromosome MT
Mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5
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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; Leigh disease; and MELAS syndrome. [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
ENSG00000198786
Associated Conditions (11)
Leigh syndrome
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
MELAS syndrome
Leber optic atrophy
Mitochondrial disease
Mitochondrial complex V (ATP synthase) deficiency
nuclear type 5
Leigh syndrome due to mitochondrial complex I deficiency
MERRF syndrome
Primary mitochondrial disorders
mitochondrial
Key Variants
RS1603224043
Conflicting classifications of pathogenicity
Leigh syndrome, Leigh syndrome
Health Risk
RS1603223730
Likely pathogenic
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency, MELAS syndrome, Leber optic atrophy
Health Risk
RS1603223971
Likely pathogenic
Leigh syndrome, MELAS syndrome, Leber optic atrophy
Health Risk
RS1603224015
Likely pathogenic
MELAS syndrome, Mitochondrial disease, MELAS syndrome
Health Risk
RS267606893
Likely pathogenic
Leigh syndrome due to mitochondrial complex I deficiency, Leigh syndrome, Leber optic atrophy
Health Risk
RS267606898
Likely pathogenic
MELAS syndrome, MERRF syndrome, Leigh syndrome due to mitochondrial complex I deficiency
Health Risk
RS587776440
Likely pathogenic
Leigh syndrome, Mitochondrial disease, MELAS syndrome
Health Risk
RS1603224029
Pathogenic
MELAS syndrome, Mitochondrial disease, Leber optic atrophy
Health Risk
RS267606897
Pathogenic
Leigh syndrome due to mitochondrial complex I deficiency, MELAS syndrome, Leigh syndrome
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1603224043 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Leigh syndrome |
| RS1603223730 | Health Risk | Likely pathogenic | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency, MELAS syndrome, Leber optic atrophy |
| RS1603223971 | Health Risk | Likely pathogenic | Leigh syndrome, MELAS syndrome, Leber optic atrophy |
| RS1603224015 | Health Risk | Likely pathogenic | MELAS syndrome, Mitochondrial disease, MELAS syndrome |
| RS267606893 | Health Risk | Likely pathogenic | Leigh syndrome due to mitochondrial complex I deficiency, Leigh syndrome, Leber optic atrophy |
| RS267606898 | Health Risk | Likely pathogenic | MELAS syndrome, MERRF syndrome, Leigh syndrome due to mitochondrial complex I deficiency |
| RS587776440 | Health Risk | Likely pathogenic | Leigh syndrome, Mitochondrial disease, MELAS syndrome |
| RS1603224029 | Health Risk | Pathogenic | MELAS syndrome, Mitochondrial disease, Leber optic atrophy |
| RS267606897 | Health Risk | Pathogenic | Leigh syndrome due to mitochondrial complex I deficiency, MELAS syndrome, Leigh syndrome |