GLO1 (Glyoxalase I)
A key enzyme in methylglyoxal detoxification, implicated in diabetic complications, cancer, and neurodegenerative disorders.
Gene Information Card
| Symbol | GLO1 |
|---|---|
| Full Name | Glyoxalase I |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.2 |
| NCBI Gene ID | 2739 ncbi.nlm.nih.gov/gene/2739 |
| Ensembl ID | ENSG00000124767 |
| UniProt ID | Q04760 |
| OMIM ID | 138750 |
| HGNC ID | 4319 |
| Aliases | GLOD1, GLYI, HEL-S-77 |
Description
GLO1 encodes glyoxalase I, a cytosolic enzyme that catalyzes the conversion of methylglyoxal and glutathione to S-D-lactoylglutathione. This is the first step in the glyoxalase system, which detoxifies reactive dicarbonyls and prevents the formation of advanced glycation end-products (AGEs). The gene is located on chromosome 6p21.2 and is expressed ubiquitously.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diabetic nephropathy | Reduced GLO1 activity leads to methylglyoxal accumulation and AGE formation, contributing to renal damage. | PMID: 19073727 |
| Autism spectrum disorder | GLO1 copy number variants and altered expression have been associated with autism risk. | PMID: 21743477 |
| Cancer (various) | Overexpression of GLO1 in many cancers supports detoxification of methylglyoxal from glycolysis, promoting cell survival. | PMID: 23348018 |
| Vascular complications of diabetes | Methylglyoxal accumulation due to GLO1 deficiency promotes endothelial dysfunction and atherosclerosis. | PMID: 24140051 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 10.8 | High |
| Heart | 8.2 | Medium |
| Brain | 6.1 | Medium |
| Lung | 5.3 | Medium |
| Pancreas | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.2 | High expression in embryonic kidney cells |
| HeLa | 11.0 | High expression in cervical cancer cells |
| HepG2 | 9.8 | High expression in liver cancer cells |
| A549 | 7.5 | Medium expression in lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.419A>G (p.Gln140Arg) | Missense | 0.001 (gnomAD) | Reduced enzyme activity in vitro |
| c.332C>T (p.Ala111Val) | Missense | 0.0005 (gnomAD) | Unknown functional effect |
| c.1A>G (p.Met1Val) | Start loss | <0.0001 | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense mutations such as p.Gln140Arg reduce catalytic activity, impairing methylglyoxal detoxification.
Gain of Function (GOF)
Not well documented; overexpression in cancer may confer a gain-of-function phenotype through enhanced detoxification.
Dominant Negative (DN)
No dominant-negative mutations have been reported for GLO1.
View complete mutation data：
Gene Ontology (GO)
| • glyoxalase I activity (GO:0004468) | • cytoplasm (GO:0005737) |
| • cytosol (GO:0005829) | • carbohydrate metabolic process (GO:0005975) |
| • NAD biosynthetic process (GO:0009435) | • methylglyoxal catabolic process to D-lactate (GO:0019243) |
Pathways
• Glyoxalase system (R-HSA-2168880)
• Methylglyoxal degradation (R-HSA-2168880)
• Advanced glycation endproduct receptor signaling (R-HSA-879518)
Protein Summary
Glyoxalase I is a homodimeric zinc metalloenzyme that catalyzes the isomerization of the hemithioacetal formed from methylglyoxal and glutathione to S-D-lactoylglutathione. It plays a critical role in cellular detoxification of methylglyoxal, a byproduct of glycolysis. Reduced activity is linked to diabetic complications and aging, while overexpression is observed in many cancers, suggesting a role in chemoresistance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GLO1 Knockout HEK293 Cell Line | EDJ-KQ2443 | Human | 2739 | Details Get a Quote |
| GLO1 Knockout A-549 Cell Line | EDJ-KQ22957 | Human | 2739 | Details Get a Quote |
| GLO1 Knockout HCT 116 Cell Line | EDJ-KQ22958 | Human | 2739 | Details Get a Quote |
| GLO1 Knockout HeLa Cell Line | EDJ-KQ21638 | Human | 2739 | Details Get a Quote |
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