ACOX1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Inherited white matter disorders

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• peroxisomal acyl-CoA oxidase deficiency

  0.82

• Mitchell syndrome

  0.78

• hereditary disease

  0.42

• neurodegenerative disease

  0.37

• autoimmune disorder of central nervous system

  0.34

• Muscle weakness

  0.27

• hypertensive disorder

  0.18

• hypothyroidism

  0.15

• hyperlipidemia

  0.15

• morbid obesity

  0.13

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

Protein function (UniProt)