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GSTZ1

Chr 14q24.3

glutathione S-transferase zeta 1

Aliases:
GSTZ1-1, MAAI, MAI
MANE:
ENST00000216465.10

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Likely inborn error of metabolism

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • maleylacetoacetate isomerase deficiency

    0.65
  • exostosis

    0.26
  • placental abruption

    0.24
  • hepatocellular carcinoma

    0.12
  • familial idiopathic steroid-resistant nephrotic syndrome

    0.07
  • nephronophthisis

    0.07
  • focal segmental glomerulosclerosis

    0.07
  • neoplasm

    0.07
  • retinitis pigmentosa

    0.07
  • Hepatic fibrosis

    0.07

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

Protein function (UniProt)

Maleylacetoacetate isomerase

Bifunctional enzyme showing minimal glutathione-conjugating activity with ethacrynic acid and 7-chloro-4-nitrobenz-2-oxa-1,3-diazole and maleylacetoacetate isomerase activity. Also has low glutathione peroxidase activity with T-butyl and cumene hydroperoxides. Is able to catalyze the glutathione dependent oxygenation of dichloroacetic acid to glyoxylic acid

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.