GSTZ1 Chromosome 14
Glutathione S-transferase zeta 1
Upload your DNA to see your personal genotypes for variants in GSTZ1.
What This Gene Does
This gene is a member of the glutathione S-transferase (GSTs) super-family which encodes multifunctional enzymes important in the detoxification of electrophilic molecules, including carcinogens, mutagens, and several therapeutic drugs, by conjugation with glutathione. This enzyme catalyzes the conversion of maleylacetoacetate to fumarylacetoacatate, which is one of the steps in the phenylalanine/tyrosine degradation pathway. Deficiency of a similar gene in mouse causes oxidative stress. Several transcript variants of this gene encode multiple protein isoforms. [provided by RefSeq, Jul 2015]
Gene Info
Gene Group
Soluble glutathione S-transferases
Locus Type
gene with protein product
Location
14q24.3
Ensembl
ENSG00000100577
Associated Conditions (2)
Maleylacetoacetate isomerase deficiency
GSTZ1-related disorder
Key Variants
RS1368031096
Likely pathogenic
Maleylacetoacetate isomerase deficiency, Maleylacetoacetate isomerase deficiency
Health Risk
RS140540096
Likely pathogenic
Maleylacetoacetate isomerase deficiency, GSTZ1-related disorder, Maleylacetoacetate isomerase deficiency
Health Risk
RS1303562049
Pathogenic
Maleylacetoacetate isomerase deficiency, Maleylacetoacetate isomerase deficiency
Health Risk
RS200122889
Pathogenic
Maleylacetoacetate isomerase deficiency, Maleylacetoacetate isomerase deficiency
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1368031096 | Health Risk | Likely pathogenic | Maleylacetoacetate isomerase deficiency, Maleylacetoacetate isomerase deficiency |
| RS140540096 | Health Risk | Likely pathogenic | Maleylacetoacetate isomerase deficiency, GSTZ1-related disorder, Maleylacetoacetate isomerase deficiency |
| RS1303562049 | Health Risk | Pathogenic | Maleylacetoacetate isomerase deficiency, Maleylacetoacetate isomerase deficiency |
| RS200122889 | Health Risk | Pathogenic | Maleylacetoacetate isomerase deficiency, Maleylacetoacetate isomerase deficiency |
| RS199552988 | Trait | Affects | Maleylacetoacetate isomerase deficiency, Maleylacetoacetate isomerase deficiency |
| RS776678047 | Trait | Affects | Maleylacetoacetate isomerase deficiency, Maleylacetoacetate isomerase deficiency |