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TXNRD1

Chr 12q23.3

thioredoxin reductase 1

Aliases:
TXNR, GRIM-12, Trxr1, TXNR1
MANE:
ENST00000525566.6

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Early onset or syndromic epilepsy

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • acute promyelocytic leukemia

    0.59
  • neoplasm

    0.40
  • brain cancer

    0.37
  • acute myeloid leukemia

    0.37
  • diphtheria

    0.37
  • Arthritis

    0.37
  • rheumatic disorder

    0.37
  • myelodysplastic syndrome

    0.33
  • non-small cell lung carcinoma

    0.32
  • schizophrenia

    0.31

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

Protein function (UniProt)

Thioredoxin reductase 1, cytoplasmic

Reduces disulfide protein thioredoxin (Trx) to its dithiol-containing form (PubMed:8577704). Homodimeric flavoprotein involved in the regulation of cellular redox reactions, growth and differentiation. A selenocysteine residue at the C-terminal active site is essential for catalysis (Probable). Also has reductase activity on hydrogen peroxide (H2O2) (PubMed:10849437)

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.