NDUFA8

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  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

Disease associations (Open Targets)

• mitochondrial complex I deficiency, nuclear type 37

  0.73

• type 2 diabetes mellitus

  0.61

• Parkinson disease

  0.60

• neurodegenerative disease

  0.58

• diabetes mellitus

  0.58

• multiple sclerosis

  0.55

• Alzheimer disease

  0.53

• lysosomal storage disease

  0.53

• autoimmune disorder of central nervous system

  0.46

• polycystic ovary syndrome

  0.42

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

Protein function (UniProt)

Diseases associated with NDUFA8

Curated MONDO disease pages that list NDUFA8 among their top associated genes.

• neurodegenerative diseaseRare
• lysosomal storage diseaseRare
• autoimmune disorder of central nervous systemRare