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NDUFB5

Chr 3q26.33

NADH:ubiquinone oxidoreductase subunit B5

Aliases:
SGDH, CI-SGDH, MGC12314
MANE:
ENST00000259037.8

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

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

    0.41
  • prediabetes syndrome

    0.40
  • type 1 diabetes mellitus

    0.39
  • 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] 1 beta subcomplex subunit 5, 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

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.