MT-ND4L Chromosome MT
Mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L
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What This Gene Does
Enables NADH dehydrogenase (ubiquinone) activity. Predicted to be involved in mitochondrial electron transport, NADH to ubiquinone and proton motive force-driven mitochondrial ATP synthesis. Located in mitochondrial inner membrane. Part of respiratory chain complex I. Implicated in Leber hereditary optic neuropathy and diabetes mellitus. [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
ENSG00000212907
Associated Conditions (2)
Leber optic atrophy
Mitochondrial disease
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1556423844 | Health Risk | Likely pathogenic | Leber optic atrophy, Mitochondrial disease, Leber optic atrophy |