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TPI1

Chr 12p13.31

triosephosphate isomerase 1

MANE:
ENST00000396705.10

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Cytopenias and congenital anaemias

    BIALLELIC, autosomal or pseudoautosomal
  • Rare anaemia

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • triosephosphate isomerase deficiency

    0.77
  • Triose phosphate-isomerase deficiency

    0.55
  • neurodegenerative disease

    0.37
  • hereditary disease

    0.19
  • ovarian neoplasm

    0.13
  • neoplasm

    0.10
  • hyperinsulinemic hypoglycemia, familial, 4

    0.09
  • infection

    0.08
  • hepatocellular carcinoma

    0.08
  • hereditary spherocytosis

    0.08

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

Protein function (UniProt)

Triosephosphate isomerase

Triosephosphate isomerase is an extremely efficient metabolic enzyme that catalyzes the interconversion between dihydroxyacetone phosphate (DHAP) and D-glyceraldehyde-3-phosphate (G3P) in glycolysis and gluconeogenesis

Curated MONDO disease pages that list TPI1 among their top associated genes.

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.