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NDUFV3

Chr 21q22.3

NADH:ubiquinone oxidoreductase subunit V3

Aliases:
CI-10k
MANE:
ENST00000354250.7

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Mitochondrial disorder with complex I deficiency

    Unknown
  • Possible mitochondrial disorder - nuclear genes

    Unknown
  • Likely inborn error of metabolism

    Unknown
  • Mitochondrial disorders

    Unknown

Disease associations (Open Targets)

  • type 2 diabetes mellitus

    0.61
  • diabetes mellitus

    0.58
  • polycystic ovary syndrome

    0.42
  • gestational diabetes

    0.41
  • Insulin resistance

    0.40
  • prediabetes syndrome

    0.40
  • type 1 diabetes mellitus

    0.40
  • metabolic syndrome

    0.39
  • obesity disorder

    0.39
  • Obesity

    0.39

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

Protein function (UniProt)

NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial

Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. May be the terminally assembled subunit of Complex I

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.