GLRX (Glutaredoxin)
A key thiol-disulfide oxidoreductase involved in redox regulation and cellular stress responses.
Gene Information Card
| Symbol | GLRX |
|---|---|
| Full Name | Glutaredoxin |
| Gene Type | Protein coding |
| Chromosomal Location | 5q14.3 |
| NCBI Gene ID | 2745 ncbi.nlm.nih.gov/gene/2745 |
| Ensembl ID | ENSG00000173209 |
| UniProt ID | P35754 |
| OMIM ID | 600443 |
| HGNC ID | 4324 |
| Aliases | GRX, GRX1, glutaredoxin-1 |
Description
GLRX encodes glutaredoxin (thioltransferase), a small cytosolic enzyme that catalyzes the reduction of protein disulfides and mixed disulfides between glutathione and protein thiols. It plays a critical role in maintaining cellular redox homeostasis, protecting against oxidative stress, and regulating signal transduction pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Hemochromatosis (modifier) | GLRX modulates iron metabolism via redox regulation of iron regulatory proteins; variants may influence disease severity. | PMID: 15609205 |
| Cardiovascular Disease | Glutaredoxin protects against oxidative stress in endothelial cells; altered expression linked to atherosclerosis. | PMID: 20085790 |
| Cancer (various) | GLRX overexpression in some tumors (e.g., lung, breast) may promote resistance to chemotherapy by enhancing antioxidant capacity. | PMID: 21502527 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Heart | 8.9 | Medium |
| Lung | 7.3 | Low |
| Brain | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| HepG2 | 13.8 | Hepatocellular carcinoma cell line |
| A549 | 11.2 | Lung carcinoma cell line |
| MCF7 | 9.5 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Potential loss of start codon; predicted loss of function |
| c.214C>T (p.Arg72Trp) | Missense | 0.01% (gnomAD) | May affect catalytic activity; not well characterized |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants (e.g., p.Arg72Trp) may reduce enzymatic activity, impairing redox homeostasis.
Gain of Function (GOF)
Not reported in literature or databases.
Dominant Negative (DN)
Not documented.
View complete mutation data：
Gene Ontology (GO)
| • glutathione-disulfide oxidoreductase activity (GO:0004362) | • protein-disulfide reductase activity (GO:0015035) |
| • cell redox homeostasis (GO:0045454) | • cytosol (GO:0005829) |
| • membrane (GO:0016020) |
Pathways
• Glutathione metabolism (Reactome: R-HSA-174403)
• Cellular responses to stress (Reactome: R-HSA-2262752)
Protein Summary
Glutaredoxin (GRX) is a 12 kDa protein with a conserved CXXC active site motif (CPYC). It catalyzes the reduction of protein-glutathione mixed disulfides (deglycation) and protein disulfides, using glutathione as a cofactor. GRX is involved in the regulation of transcription factors (e.g., NF-κB, AP-1), iron homeostasis, and protection against oxidative damage.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GLRX2 Knockout HEK293 Cell Line | EDJ-KQ2501 | Human | 51022 | Details Get a Quote |
| GLRX Knockout HEK293 Cell Line | EDJ-KQ4725 | Human | 2745 | Details Get a Quote |
| GLRX2 Knockout A-549 Cell Line | EDJ-KQ23093 | Human | 51022 | Details Get a Quote |
| GLRX2 Knockout HCT 116 Cell Line | EDJ-KQ23094 | Human | 51022 | Details Get a Quote |
| GLRX2 Knockout HeLa Cell Line | EDJ-KQ23095 | Human | 51022 | Details Get a Quote |
| GLRX Knockout A-549 Cell Line | EDJ-KQ26220 | Human | 2745 | Details Get a Quote |
| GLRX Knockout HCT 116 Cell Line | EDJ-KQ27457 | Human | 2745 | Details Get a Quote |
| GLRX Knockout HeLa Cell Line | EDJ-KQ27458 | Human | 2745 | Details Get a Quote |
