NDUFAF4

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• 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

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Optic neuropathy

  BIALLELIC, autosomal or pseudoautosomal

• Paediatric or syndromic cardiomyopathy

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• mitochondrial complex I deficiency

  0.72

• type 2 diabetes mellitus

  0.61

• inborn mitochondrial metabolism disorder

  0.60

• mitochondrial disease

  0.60

• mitochondrial complex I deficiency, nuclear type 15

  0.58

• diabetes mellitus

  0.58

• mitochondrial complex I deficiency, nuclear type 1

  0.55

• neurodegenerative disease

  0.55

• 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)

Diseases associated with NDUFAF4

Curated MONDO disease pages that list NDUFAF4 among their top associated genes.

• inborn mitochondrial metabolism disorderRare