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GenoLensGenoLens

CAT

Chr 11p13

catalase

MANE:
ENST00000241052.5

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Likely inborn error of metabolism

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Peroxisomal disorders

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Undiagnosed metabolic disorders

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

  • acatalasia

    0.69
  • type 2 diabetes mellitus

    0.36
  • COVID-19

    0.28
  • major depressive disorder

    0.25
  • neurodegenerative disease

    0.22
  • narcolepsy

    0.22
  • Intellectual disability

    0.12
  • neoplasm

    0.12
  • hepatocellular carcinoma

    0.11
  • hydrops fetalis

    0.11

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

Protein function (UniProt)

Catalase

Catalyzes the degradation of hydrogen peroxide (H(2)O(2)) generated by peroxisomal oxidases to water and oxygen, thereby protecting cells from the toxic effects of hydrogen peroxide (PubMed:7882369). Promotes growth of cells including T-cells, B-cells, myeloid leukemia cells, melanoma cells, mastocytoma cells and normal and transformed fibroblast cells (PubMed:7882369)

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.