GSTA1

Chr 6

glutathione S-transferase alpha 1

Also known as: GST-epsilon, GST2, GSTA1-1, GTH1

This gene encodes a member of a family of enzymes that function to add glutathione to target electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins, and products of oxidative stress. This action is an important step in detoxification of these compounds. This subfamily of enzymes has a particular role in protecting cells from reactive oxygen species and the products of peroxidation. Polymorphisms in this gene influence the ability of individuals to metabolize different drugs. This gene is located in a cluster of similar genes and pseudogenes on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

ResearchGenerating clinical summary…
1
Active trials
64
Pubs (1 yr)
P/LP submissions
P/LP missense
1.63
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.63LOEUF
pLI 0.000
Z-score 0.12
OE 0.96 (0.571.63)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.60Z-score
OE missense 1.41 (1.251.61)
167 obs / 118.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.96 (0.571.63)
00.351.4
Missense OE?1.41 (1.251.61)
00.61.4
Synonymous OE?1.47
01.21.6
LoF obs/exp: 9 / 9.4Missense obs/exp: 167 / 118.2Syn Z: -2.39

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

GSTA1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.