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TMX3

Chr 18q22.1

thioredoxin related transmembrane protein 3

Aliases:
FLJ20793, KIAA1830, PDIA13
MANE:
ENST00000299608.7

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Structural eye disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • postinflammatory pulmonary fibrosis

    0.29
  • endocarditis

    0.28
  • liver disorder

    0.27
  • acquired thrombocytopenia

    0.22
  • response to antibiotic

    0.19
  • response to xenobiotic stimulus

    0.19
  • poisoning

    0.19
  • Abnormality of the skeletal system

    0.17
  • preeclampsia

    0.16
  • memory impairment

    0.16

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

Protein function (UniProt)

Protein disulfide-isomerase TMX3

Probable disulfide isomerase, which participates in the folding of proteins containing disulfide bonds. May act as a dithiol oxidase (PubMed:15623505). Acts as a regulator of endoplasmic reticulum-mitochondria contact sites via its ability to regulate redox signals (PubMed:31304984)

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.