NDUFA12

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset dystonia

  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

• Optic neuropathy

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• mitochondrial complex I deficiency, nuclear type 23

  0.75

• mitochondrial complex I deficiency

  0.63

• type 2 diabetes mellitus

  0.61

• diabetes mellitus

  0.58

• polycystic ovary syndrome

  0.42

• gestational diabetes

  0.41

• Insulin resistance

  0.40

• prediabetes syndrome

  0.40

• type 1 diabetes mellitus

  0.39

• metabolic syndrome

  0.39

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

Protein function (UniProt)