NDUFA1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood onset dystonia, chorea or related movement disorder

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• DDG2P

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Early onset or syndromic epilepsy

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Intellectual disability

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Likely inborn error of metabolism

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Mitochondrial disorder with complex I deficiency

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Mitochondrial disorders

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Possible mitochondrial disorder - nuclear genes

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

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Disease associations (Open Targets)

• mitochondrial complex I deficiency

  0.75

• mitochondrial complex I deficiency, nuclear type 12

  0.64

• type 2 diabetes mellitus

  0.61

• diabetes mellitus

  0.58

• mitochondrial complex I deficiency, nuclear type 1

  0.56

• inborn mitochondrial metabolism disorder

  0.55

• mitochondrial disease

  0.55

• neurodegenerative disease

  0.53

• 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)