NDUFAF5

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  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

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• mitochondrial complex I deficiency

  0.75

• mitochondrial complex I deficiency, nuclear type 16

  0.70

• Leigh syndrome

  0.62

• inborn mitochondrial metabolism disorder

  0.60

• mitochondrial disease

  0.60

• mitochondrial complex I deficiency, nuclear type 1

  0.57

• hereditary disease

  0.39

• Leber plus disease

  0.32

• neurodegenerative disease

  0.16

• benign prostatic hyperplasia

  0.07

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

Protein function (UniProt)

Diseases associated with NDUFAF5

Curated MONDO disease pages that list NDUFAF5 among their top associated genes.

• inborn mitochondrial metabolism disorderRare