MT-ND3

Chr MT

NADH dehydrogenase subunit 3

Also known as: MTND3

NCBI Gene: 4537 ENSG00000198840 UniProt: P03897 OMIM: 516002

This gene encodes a core subunit of NADH:ubiquinone oxidoreductase (Complex I) in the mitochondrial respiratory chain, which transfers electrons from NADH to ubiquinone during oxidative phosphorylation. Mutations cause Leigh syndrome and Complex I deficiency, with clinical severity depending on the degree of heteroplasmy. Inheritance follows a maternal pattern due to its location in the mitochondrial genome.

GeneReviews OMIM ResearchSummary from Curated mito context

Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone. Located in mitochondrial inner membrane. Part of respiratory chain complex I. Implicated in Leber hereditary optic neuropathy; Leigh disease; and Parkinson's disease. [provided by Alliance of Genome Resources, Jul 2025]

GeneReviews OMIM ResearchGenerating clinical summary…