rs750964006

This variant is located in the GSTZ1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About GSTZ1

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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