NDUFS6

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Hereditary neuropathy or pain 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

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Paediatric or syndromic cardiomyopathy

  BIALLELIC, autosomal or pseudoautosomal

+1 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• mitochondrial complex I deficiency

  0.75

• mitochondrial complex I deficiency, nuclear type 9

  0.68

• type 2 diabetes mellitus

  0.61

• mitochondrial disease

  0.60

• inborn mitochondrial metabolism disorder

  0.60

• diabetes mellitus

  0.58

• mitochondrial complex I deficiency, nuclear type 1

  0.56

• neurodegenerative disease

  0.52

• 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)