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MT-ND3

Chr mitochondria

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3

Aliases:
ND3, NAD3

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Likely inborn error of metabolism

    MITOCHONDRIAL
  • Mitochondrial disorders

    MITOCHONDRIAL
  • Undiagnosed metabolic disorders

    MITOCHONDRIAL
  • Optic neuropathy

    MITOCHONDRIAL
  • Childhood onset dystonia, chorea or related movement disorder

    MITOCHONDRIAL

Disease associations (Open Targets)

  • Leigh syndrome

    0.72
  • mitochondrial disease

    0.67
  • mitochondrial complex I deficiency

    0.67
  • type 2 diabetes mellitus

    0.61
  • diabetes mellitus

    0.58
  • MELAS syndrome

    0.57
  • Isolated cytochrome C oxidase deficiency

    0.52
  • leigh syndrome due to mitochondrial complex iv deficiency

    0.52
  • MERRF

    0.49
  • MERRF syndrome

    0.49

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

NADH-ubiquinone oxidoreductase chain 3

Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:25118196). Essential for the catalytic activity of complex I (PubMed:25118196)

Curated MONDO disease pages that list MT-ND3 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.