NDUFAF6

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood onset dystonia, chorea or related movement disorder

  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

• Structural basal ganglia disorders

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Adult onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Leigh syndrome

  0.69

• mitochondrial complex I deficiency

  0.67

• mitochondrial complex I deficiency, nuclear type 17

  0.67

• primary Fanconi syndrome

  0.60

• Leigh syndrome with cardiomyopathy

  0.54

• maternally-inherited Leigh syndrome

  0.54

• hereditary disease

  0.49

• neurodegenerative disease

  0.48

• mitochondrial disease

  0.46

• inborn mitochondrial metabolism disorder

  0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Diseases associated with NDUFAF6

Curated MONDO disease pages that list NDUFAF6 among their top associated genes.

• Leigh syndromeRare