GLO1

Chr 6

glyoxalase I

Also known as: GLOD1, GLYI, HEL-S-74

NCBI Gene: 2739ENSG00000124767UniProt: Q04760

The enzyme encoded by this gene is responsible for the catalysis and formation of S-lactoyl-glutathione from methylglyoxal condensation and reduced glutatione. Glyoxalase I is linked to HLA and is localized to 6p21.3-p21.1, between HLA and the centromere. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
70
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.46
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.46LOEUF
pLI 0.000
Z-score 0.42
OE 0.87 (0.53–1.46)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.42Z-score
OE missense 0.88 (0.73–1.05)
82 obs / 93.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.87 (0.53–1.46)
0≤0.351.4
Missense OE?0.88 (0.73–1.05)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 10 / 11.5Missense obs/exp: 82 / 93.4Syn Z: -0.08

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GLO1 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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