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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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GSTZ1
glutathione S-transferase zeta 1
Chromosome 14 · 14q24.3
NCBI Gene: 2954Ensembl: ENSG00000100577.19HGNC: HGNC:4643UniProt: A0A0A0MR33
87PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cellular detoxificationcytosolprotein bindingglutathione metabolic processmaleylacetoacetate isomerase deficiencyexostosisAbruptio Placentaehepatocellular carcinoma
✦AI Summary

GSTZ1 (glutathione S-transferase zeta 1) is a bifunctional enzyme with dual roles in cellular detoxification and amino acid metabolism 1. Primarily, GSTZ1 functions as maleylacetoacetate isomerase (MAAI), catalyzing the penultimate step in phenylalanine and tyrosine catabolism 21. The enzyme exhibits glutathione conjugating activity with xenobiotics, including the investigational drug dichloroacetate (DCA), which it metabolizes to glyoxylate, and possesses minimal glutathione peroxidase activity 1. Located primarily in hepatic cytoplasm with lesser mitochondrial localization 1, GSTZ1 participates in broader detoxification of electrophilic compounds and endogenous reactive species formed during oxidative stress 3. Genetically, GSTZ1 exhibits functional polymorphisms with at least four haplotypic variants (1a-1d); haplotype composition influences both enzymatic activity and DCA metabolism rates, with K-carrier variants showing reduced expression in Caucasian populations 45. Physiological chloride and certain anions modulate GSTZ1 inactivation by DCA in haplotype-dependent manner 5. Clinically, GSTZ1 deficiency causes maleylacetoacetate isomerase deficiency (MAAID), a rare condition presenting with elevated succinylacetone at newborn screening 6. However, no definitive clinical disease consequences have been definitively established despite the enzyme's critical metabolic role 1. Additionally, GSTZ1 loss promotes hepatocellular carcinoma metastasis through dysregulated glucuronic acid metabolism and TGFβ pathway activation 7.

Sources cited
1
GSTZ1/MAAI is a bifunctional enzyme integral to phenylalanine/tyrosine catabolism, metabolizes DCA to glyoxylate, is most abundant in liver, and its activity depends on age and chloride levels
PMID: 37742772
2
GSTZ1 is identical to maleylacetoacetate isomerase, catalyzes the penultimate step in tyrosine degradation, has peroxidase activity, and phenylalanine is toxic to Gstz1-/- mice
PMID: 21303221
3
GSTs detoxify electrophilic xenobiotics and endogenous alpha,beta-unsaturated aldehydes, quinones, epoxides, and hydroperoxides formed during oxidative stress
PMID: 15822171
4
GSTZ1 haplotype variations (K-carrier vs non-K carrier) influence GSTZ1 protein expression and DCA metabolism rates, with differences between racial/ethnic populations
PMID: 25738370
5
Chloride and other anions inhibit DCA-induced GSTZ1 inactivation in a concentration and haplotype-dependent manner
PMID: 24632415
6
MAAID presents with elevated succinylacetone at newborn screening and is caused by GSTZ1 variants; no medical treatment is currently warranted
PMID: 41009955
7
GSTZ1 deficiency promotes hepatocellular carcinoma metastasis through dysregulated glucuronic acid metabolism and TGFβR1 mRNA stabilization
PMID: 35979621
Disease Associationsⓘ21
maleylacetoacetate isomerase deficiencyOpen Targets
0.65Moderate
exostosisOpen Targets
0.29Weak
Abruptio PlacentaeOpen Targets
0.27Weak
hepatocellular carcinomaOpen Targets
0.12Weak
neoplasmOpen Targets
0.07Suggestive
Hepatic fibrosisOpen Targets
0.06Suggestive
X-linked retinal dysplasiaOpen Targets
0.05Suggestive
Congenital bile acid synthesis defect type 1Open Targets
0.04Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.04Suggestive
hypoparathyroidism, familial isolated, 2Open Targets
0.04Suggestive
Congenital bile acid synthesis defect type 2Open Targets
0.04Suggestive
hepatorenocardiac degenerative fibrosisOpen Targets
0.04Suggestive
transient infantile hypertriglyceridemia and hepatosteatosisOpen Targets
0.04Suggestive
congenital neutropenia-myelofibrosis-nephromegaly syndromeOpen Targets
0.04Suggestive
Recurrent infections-myelofibrosis-nephromegaly syndromeOpen Targets
0.04Suggestive
Alzheimer diseaseOpen Targets
0.04Suggestive
atrial fibrillationOpen Targets
0.04Suggestive
proteasome-associated autoinflammatory syndrome 5Open Targets
0.04Suggestive
pseudohypoparathyroidism type 2Open Targets
0.04Suggestive
immunodeficiency 104Open Targets
0.03Suggestive
Maleylacetoacetate isomerase deficiencyUniProt
Pathogenic Variants4
NM_145870.3(GSTZ1):c.128del (p.Gly43fs)Likely pathogenic
Maleylacetoacetate isomerase deficiency
★☆☆☆2023→ Residue 43
NM_145870.3(GSTZ1):c.216+1G>APathogenic
Maleylacetoacetate isomerase deficiency
★☆☆☆2023
NM_145870.3(GSTZ1):c.295G>A (p.Val99Met)Likely pathogenic
Maleylacetoacetate isomerase deficiency|not provided|GSTZ1-related disorder
★☆☆☆2022→ Residue 99
NM_145870.3(GSTZ1):c.136-2A>GPathogenic
Maleylacetoacetate isomerase deficiency
★☆☆☆2018
View on ClinVar ↗
Related Genes
HGDProtein interaction100%GSTA1Protein interaction93%GSTA2Protein interaction92%GSTA4Protein interaction92%GSTM1Protein interaction92%GSTM3Protein interaction92%
Tissue Expression6 tissues
Liver
100%
Brain
17%
Heart
9%
Bone Marrow
8%
Lung
7%
Ovary
7%
Gene Interaction Network
Click a node to explore
GSTZ1HGDGSTA1GSTA2GSTA4GSTM1GSTM3
PROTEIN STRUCTURE
Preparing viewer…
PDB1FW1 · 1.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.34LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.92 [0.65–1.34]
RankingsWhere GSTZ1 stands among ~20K protein-coding genes
  • #5,483of 20,598
    Most Researched87
  • #3,758of 5,498
    Most Pathogenic Variants4
  • #14,043of 17,882
    Most Constrained (LOEUF)1.34
Genes detectedGSTZ1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Glutathione transferases.
PMID: 15822171
Annu Rev Pharmacol Toxicol · 2005
1.00
2
Clinical physiology and pharmacology of GSTZ1/MAAI.
PMID: 37742772
Biochem Pharmacol · 2023
0.90
3
The influence of human GSTZ1 gene haplotype variations on GSTZ1 expression.
PMID: 25738370
Pharmacogenet Genomics · 2015
0.80
4
Dysregulated glucuronic acid metabolism exacerbates hepatocellular carcinoma progression and metastasis through the TGFβ signalling pathway.
PMID: 35979621
Clin Transl Med · 2022
0.70
5
Variants in
PMID: 41009955
Genes (Basel) · 2025
0.60