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NDUFB7

Chr 19p13.12

NADH:ubiquinone oxidoreductase subunit B7

Aliases:
B18, CI-B18, MGC2480
MANE:
ENST00000215565.3

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • 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
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • mitochondrial complex I deficiency, nuclear type 39

    0.63
  • type 2 diabetes mellitus

    0.61
  • diabetes mellitus

    0.58
  • Parkinson disease

    0.57
  • neurodegenerative disease

    0.55
  • multiple sclerosis

    0.52
  • lysosomal storage disease

    0.51
  • Alzheimer disease

    0.50
  • polycystic ovary syndrome

    0.42
  • gestational diabetes

    0.41

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 7

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.