GSTZ1
Function
Bifunctional enzyme showing minimal glutathione-conjugating activity with ethacrynic acid and 7-chloro-4-nitrobenz-2-oxa-1,3-diazole and maleylacetoacetate isomerase activity. Has also low glutathione peroxidase activity with T-butyl and cumene hydroperoxides. Is able to catalyze the glutathione dependent oxygenation of dichloroacetic acid to glyoxylic acid.
Involvement in disease
Maleylacetoacetate isomerase deficiency
MAAID
An autosomal recessive inborn error of metabolism characterized by mild elevations in succinylacetone in blood and urine, usually identified by newborn screening. Liver function and coagulation are normal. MAAID is a benign disorder.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step 5/6.
Sequence Similarities
Belongs to the GST superfamily. Zeta family.
Tissue Specificity
Mostly expressed in liver followed by kidney, skeletal muscle and brain. Also expressed in melanocytes, synovium, placenta, breast and fetal liver and heart.
Cellular localization
- Cytoplasm
Alternative names
MAAI, GSTZ1, Maleylacetoacetate isomerase, GSTZ1-1, Glutathione S-transferase zeta 1