GSTO1

Chr 10

glutathione S-transferase omega 1

Also known as: GSTO 1-1, GSTTLp28, HEL-S-21, P28, SPG-R

NCBI Gene: 9446ENSG00000148834UniProt: P78417OMIM: 605482

The protein encoded by this gene is an omega class glutathione S-transferase (GST) with glutathione-dependent thiol transferase and dehydroascorbate reductase activities. GSTs are involved in the metabolism of xenobiotics and carcinogens. The encoded protein acts as a homodimer and is found in the cytoplasm. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

OMIMResearchGenerating clinical summary…
1
Active trials
38
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.75
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.75LOEUF
pLI 0.000
Z-score -0.37
OE 1.12 (0.71–1.75)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.39Z-score
OE missense 0.90 (0.77–1.05)
114 obs / 126.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.12 (0.71–1.75)
0≤0.351.4
Missense OE?0.90 (0.77–1.05)
0≤0.61.4
Synonymous OE?0.91
0≤1.21.6
LoF obs/exp: 12 / 10.7Missense obs/exp: 114 / 126.4Syn Z: 0.52

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GSTO1 · protein map & ClinVar variants

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

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients