rs587777816

This variant is located in the GSTZ1 gene.

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ClinVar annotation

Pathogenic★☆☆☆

2 submitters4 publications

Autosomal recessive limb-girdle muscular dystrophy type 2N; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 (MDDGB2)

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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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