MT-ND2 Chromosome MT
Mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2
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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; multiple sclerosis; myocardial infarction; neurodegenerative disease (multiple); and urinary bladder cancer. [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
ENSG00000198763
Associated Conditions (2)
Mitochondrial complex I deficiency
Mitochondrial disease
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS267606888 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, Mitochondrial disease, Mitochondrial complex I deficiency |