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GenoLensGenoLens

SUOX

Chr 12q13.2

sulfite oxidase

MANE:
ENST00000266971.8

Annotations refreshed 10 hours ago.

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

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Likely inborn error of metabolism

    BIALLELIC, autosomal or pseudoautosomal
  • Undiagnosed metabolic disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Adult onset dystonia, chorea or related movement disorder

    BIALLELIC, autosomal or pseudoautosomal
  • Adult onset neurodegenerative disorder

    Unknown

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Disease associations (Open Targets)

  • isolated sulfite oxidase deficiency

    0.83
  • encephalopathy due to sulfite oxidase deficiency

    0.65
  • asthma

    0.56
  • Sulfocysteinuria

    0.52
  • rheumatoid arthritis

    0.52
  • type 1 diabetes mellitus

    0.52
  • hereditary disease

    0.50
  • childhood onset asthma

    0.49
  • hypothyroidism

    0.47
  • allergic disease

    0.47

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

Protein function (UniProt)

Sulfite oxidase, mitochondrial

Catalyzes the oxidation of sulfite to sulfate, the terminal reaction in the oxidative degradation of sulfur-containing amino acids (By similarity). Can run in reverse direction and reduce nitrite to nitric oxide under physiologically relevant conditions, such as hypoxia (PubMed:41337830)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.