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NDUFB9

Chr 8q24.13

NADH:ubiquinone oxidoreductase subunit B9

Aliases:
B22, UQOR22, LYRM3
MANE:
ENST00000276689.8

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Likely inborn error of metabolism

    BIALLELIC, autosomal or pseudoautosomal
  • Mitochondrial disorder with complex I deficiency

    BIALLELIC, autosomal or pseudoautosomal
  • Mitochondrial disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Possible mitochondrial disorder - nuclear genes

    BIALLELIC, autosomal or pseudoautosomal
  • Undiagnosed metabolic disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

  • type 2 diabetes mellitus

    0.61
  • diabetes mellitus

    0.58
  • neurodegenerative disease

    0.57
  • mitochondrial complex I deficiency

    0.55
  • Parkinson disease

    0.55
  • multiple sclerosis

    0.49
  • lysosomal storage disease

    0.48
  • Alzheimer disease

    0.47
  • mitochondrial complex I deficiency, nuclear type 24

    0.44
  • polycystic ovary syndrome

    0.42

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 9

Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed to be not 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 NDUFB9 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.