NDUFA6

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

• Paediatric or syndromic cardiomyopathy

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• mitochondrial complex I deficiency, nuclear type 33

  0.71

• type 2 diabetes mellitus

  0.61

• mitochondrial complex I deficiency

  0.59

• diabetes mellitus

  0.58

• neurodegenerative disease

  0.57

• mitochondrial disease

  0.54

• Parkinson disease

  0.54

• multiple sclerosis

  0.49

• Alzheimer disease

  0.47

• lysosomal storage disease

  0.46

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

Protein function (UniProt)