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NDUFS5

Chr 1p34.3

NADH:ubiquinone oxidoreductase subunit S5

Aliases:
CI-15k
MANE:
ENST00000372969.8

Annotations refreshed 1 month 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

Disease associations (Open Targets)

  • type 2 diabetes mellitus

    0.61
  • Parkinson disease

    0.60
  • diabetes mellitus

    0.59
  • neurodegenerative disease

    0.58
  • multiple sclerosis

    0.55
  • Alzheimer disease

    0.54
  • lysosomal storage disease

    0.53
  • polycystic ovary syndrome

    0.42
  • gestational diabetes

    0.41
  • Insulin resistance

    0.40

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

Protein function (UniProt)

NADH dehydrogenase [ubiquinone] iron-sulfur protein 5

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

Curated MONDO disease pages that list NDUFS5 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.