HAGHL: Hydroxyacylglutathione Hydrolase-Like
A gene encoding a putative glyoxalase II enzyme involved in methylglyoxal detoxification
Gene Information Card
| Symbol | HAGHL |
|---|---|
| Full Name | Hydroxyacylglutathione Hydrolase-Like |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 84264 ncbi.nlm.nih.gov/gene/84264 |
| Ensembl ID | ENSG00000161921 |
| UniProt ID | Q6PMP8 |
| OMIM ID | 618425 |
| HGNC ID | 26419 |
| Aliases | HAGHL1, MGC13170 |
Description
HAGHL encodes a protein that is similar to hydroxyacylglutathione hydrolase (glyoxalase II), an enzyme involved in the detoxification of methylglyoxal, a cytotoxic byproduct of glycolysis. The protein contains a metallo-beta-lactamase domain and is predicted to function in glutathione metabolism. Expression is observed in multiple tissues, with highest levels in the kidney and liver.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association confirmed | Not established | No curated evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Liver | 10.3 | Medium |
| Heart | 6.8 | Low |
| Brain | 4.2 | Low |
| Lung | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 8.7 | Moderate expression |
| HepG2 | 7.2 | Moderate expression |
| A549 | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function variants in ClinVar or COSMIC.
Gain of Function (GOF)
No documented gain-of-function variants.
Dominant Negative (DN)
No documented dominant-negative variants.
View complete mutation data：
Gene Ontology (GO)
| • hydroxyacylglutathione hydrolase activity (GO:0004415) | • hydrolase activity (GO:0016787) |
| • cytoplasm (GO:0005737) | • cytosol (GO:0005829) |
| • xenobiotic metabolic process (GO:0006805) | • methylglyoxal catabolic process (GO:0019243) |
Pathways
• Methylglyoxal degradation (glyoxalase system)
Protein Summary
The HAGHL protein (UniProt Q6PMP8) is a 308-amino acid enzyme belonging to the metallo-beta-lactamase superfamily. It is predicted to catalyze the hydrolysis of S-D-lactoylglutathione to D-lactate and glutathione, similar to glyoxalase II. The protein is localized in the cytoplasm and cytosol, and its expression is highest in kidney and liver tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HAGHL Knockout HEK293 Cell Line | EDJ-KQ51824 | Human | 84264 | Details Get a Quote |
| HAGHL Knockout HeLa Cell Line | EDJ-KQ57564 | Human | 84264 | Details Get a Quote |
| HAGHL Knockout A-549 Cell Line | EDJ-KQ66061 | Human | 84264 | Details Get a Quote |
| HAGHL Knockout HCT 116 Cell Line | EDJ-KQ74483 | Human | 84264 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
