EPX (Eosinophil Peroxidase) Gene
Gene encoding eosinophil peroxidase, a key enzyme in eosinophil-mediated host defense and inflammatory responses.
Gene Information Card
| Symbol | EPX |
|---|---|
| Full Name | Eosinophil Peroxidase |
| Gene Type | protein-coding |
| Chromosomal Location | 17q22 |
| NCBI Gene ID | 8288 ncbi.nlm.nih.gov/gene/8288 |
| Ensembl ID | ENSG00000108379 |
| UniProt ID | P11678 |
| OMIM ID | 131399 |
| HGNC ID | 3423 |
| Aliases | EPP, EPO, EPX-PEN |
Description
The EPX gene encodes eosinophil peroxidase, a heme-containing enzyme expressed primarily in eosinophils. It catalyzes the production of hypohalous acids from hydrogen peroxide and halide ions, contributing to the antimicrobial and cytotoxic activities of eosinophils. EPX is involved in host defense against parasites and has been implicated in allergic inflammation and tissue damage.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Eosinophil Peroxidase Deficiency | Loss-of-function mutations in EPX reduce enzymatic activity, impairing eosinophil-mediated killing of pathogens. | ClinVar, OMIM |
| Asthma | EPX-derived oxidants contribute to airway inflammation and epithelial damage. | NCBI Gene, PubMed |
| Eosinophilic Esophagitis | Elevated EPX activity and deposition in esophageal tissue correlate with disease severity. | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 0.0 | Not detected |
| Spleen | 0.0 | Not detected |
| Lung | 0.0 | Not detected |
| Whole Blood | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Eosinophils (primary) | High | Major site of expression |
| HL-60 (differentiated) | Moderate | After differentiation to eosinophil-like cells |
| K-562 | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.862C>T (p.Arg288Trp) | Missense | Rare | Reduced peroxidase activity |
| c.1291G>A (p.Gly431Arg) | Missense | Rare | Impaired heme binding and catalytic function |
| c.1666C>T (p.Arg556*) | Nonsense | Very rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense variants that reduce or abolish enzymatic activity, leading to eosinophil peroxidase deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • peroxidase activity (GO:0004601) | • heme binding (GO:0020037) |
| • hydrogen peroxide catabolic process (GO:0042744) | • innate immune response (GO:0045087) |
| • extracellular region (GO:0005576) |
Pathways
• Reactome: R-HSA-6798695 - Neutrophil degranulation (eosinophil peroxidase involved)
• KEGG: hsa04640 - Hematopoietic cell lineage
Protein Summary
Eosinophil peroxidase (EPX) is a 715-amino acid glycoprotein that forms a homodimer. It contains a heme prosthetic group essential for its peroxidase activity. The enzyme is stored in eosinophil granules and released upon activation. EPX generates reactive halogen species that are toxic to microorganisms but can also damage host tissues in allergic and inflammatory diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EPX Knockout HEK293 Cell Line | EDJ-KQ6192 | Human | 8288 | Details Get a Quote |
| EPX Knockout HeLa Cell Line | EDJ-KQ54845 | Human | 8288 | Details Get a Quote |
| EPX Knockout A-549 Cell Line | EDJ-KQ63334 | Human | 8288 | Details Get a Quote |
| EPX Knockout HCT 116 Cell Line | EDJ-KQ71804 | Human | 8288 | Details Get a Quote |
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