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NDUFB3

Chr 2q33.1

NADH:ubiquinone oxidoreductase subunit B3

Aliases:
B12
MANE:
ENST00000237889.9

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • 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
  • Paediatric or syndromic cardiomyopathy

    BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

  • mitochondrial complex I deficiency, nuclear type 25

    0.73
  • mitochondrial complex I deficiency

    0.63
  • type 2 diabetes mellitus

    0.61
  • diabetes mellitus

    0.58
  • hereditary disease

    0.49
  • polycystic ovary syndrome

    0.42
  • gestational diabetes

    0.41
  • Insulin resistance

    0.40
  • prediabetes syndrome

    0.40
  • type 1 diabetes mellitus

    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 3

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.