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PRDX3

Chr 10q26.11

peroxiredoxin 3

Aliases:
MER5, AOP-1, SP-22
MANE:
ENST00000298510.4

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Ataxia and cerebellar anomalies - narrow panel

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Hereditary ataxia with onset in adulthood

    BIALLELIC, autosomal or pseudoautosomal
  • Corneal dystrophy

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • spinocerebellar ataxia, autosomal recessive 32

    0.65
  • corneal dystrophy, punctiform and polychromatic pre-descemet

    0.57
  • autosomal recessive cerebellar ataxia

    0.27
  • neurodegenerative disease

    0.26
  • hereditary disease

    0.19
  • cerebellar ataxia

    0.19
  • aceruloplasminemia

    0.19
  • Hepatic fibrosis

    0.09
  • breast cancer

    0.09
  • ovarian carcinoma

    0.09

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

Protein function (UniProt)

Thioredoxin-dependent peroxide reductase, mitochondrial

Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Plays a role in cell protection against oxidative stress by detoxifying peroxides (PubMed:17707404, PubMed:29438714, PubMed:33889951, PubMed:7733872). Acts synergistically with MAP3K13 to regulate the activation of NF-kappa-B in the cytosol (PubMed:12492477). Required for the maintenance of physical strength (By similarity)

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.