NDUFS3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• 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

• Paediatric or syndromic cardiomyopathy

  BIALLELIC, autosomal or pseudoautosomal

• Adult onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• mitochondrial complex I deficiency

  0.71

• type 2 diabetes mellitus

  0.65

• diabetes mellitus

  0.59

• mitochondrial complex I deficiency, nuclear type 8

  0.58

• Leigh syndrome

  0.57

• mitochondrial complex I deficiency, nuclear type 1

  0.55

• inborn mitochondrial metabolism disorder

  0.55

• mitochondrial disease

  0.55

• maternally-inherited Leigh syndrome

  0.50

• Leigh syndrome with cardiomyopathy

  0.50

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

Protein function (UniProt)

Diseases associated with NDUFS3

Curated MONDO disease pages that list NDUFS3 among their top associated genes.

• metabolic dysfunction-associated steatotic liver diseaseRare
• gestational diabetesRare