MPO Gene - Myeloperoxidase
Key enzyme in innate immunity and oxidative stress
Gene Information Card
| Symbol | MPO |
|---|---|
| Full Name | Myeloperoxidase |
| Gene Type | protein-coding |
| Chromosomal Location | 17q22 |
| NCBI Gene ID | 4353 ncbi.nlm.nih.gov/gene/4353 |
| Ensembl ID | ENSG00000005381 |
| UniProt ID | P05164 |
| OMIM ID | 254600 |
| HGNC ID | 7218 |
| Aliases | MPO, myeloperoxidase |
Description
The MPO gene encodes myeloperoxidase, a heme-containing lysosomal enzyme expressed primarily in neutrophils and monocytes. It catalyzes the production of hypochlorous acid from hydrogen peroxide and chloride ions, playing a critical role in microbial killing during phagocytosis. MPO also modulates oxidative stress and inflammation, and its deficiency is the most common inherited disorder of phagocyte function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Myeloperoxidase deficiency | Loss-of-function mutations impair hypochlorous acid production, leading to defective microbial killing | OMIM #254600 |
| Acute myeloid leukemia | MPO expression is a diagnostic marker; mutations may contribute to leukemogenesis | ClinVar, COSMIC |
| Alzheimer disease | MPO-mediated oxidative damage and amyloid-beta interaction implicated in neuroinflammation | NCBI Gene, PubMed |
| Atherosclerosis | MPO promotes LDL oxidation and endothelial dysfunction, contributing to plaque formation | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | High |
| Blood | 8.3 | Medium |
| Spleen | 6.1 | Medium |
| Lung | 2.4 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HL-60 (promyelocytic leukemia) | 15.2 | High expression; used as model for MPO studies |
| THP-1 (monocytic leukemia) | 9.8 | Medium expression; inducible by differentiation |
| K-562 (chronic myeloid leukemia) | 0.3 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.752T>C (p.Leu251Pro) | Missense | Rare | Loss of enzymatic activity |
| c.995C>T (p.Arg332Ter) | Nonsense | Rare | Premature truncation, loss of function |
| c.1705C>T (p.Arg569Trp) | Missense | Rare | Reduced heme binding and activity |
Mutation functional classification
Loss of Function (LOF)
Most MPO mutations cause loss of enzymatic activity, leading to myeloperoxidase deficiency.
Gain of Function (GOF)
Not reported for MPO.
Dominant Negative (DN)
Not reported for MPO.
View complete mutation data：
Gene Ontology (GO)
| • peroxidase activity (GO:0004601) | • heme binding (GO:0020037) |
| • defense response to bacterium (GO:0042742) | • response to oxidative stress (GO:0006979) |
| • immune system process (GO:0002376) |
Pathways
• Reactome: Innate Immune System
• Reactome: Antimicrobial peptides
• KEGG: Phagosome (hsa04145)
Protein Summary
Myeloperoxidase is a 146 kDa homodimeric glycoprotein with each subunit containing a heme group. It is stored in azurophilic granules of neutrophils and released during degranulation. The enzyme generates hypochlorous acid, a potent antimicrobial agent, and also participates in the regulation of inflammation and oxidative stress. MPO deficiency predisposes to recurrent infections, particularly with Candida species.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MPO Knockout HEK293 Cell Line | EDJ-KQ3452 | Human | 4353 | Details Get a Quote |
| TMPO Knockout HEK293 Cell Line | EDJ-KQ3893 | Human | 7112 | Details Get a Quote |
| PRIMPOL Knockout HEK293 Cell Line | EDJ-KQ5011 | Human | 201973 | Details Get a Quote |
| TMPO Knockout A-549 Cell Line | EDJ-KQ26108 | Human | 7112 | Details Get a Quote |
| TMPO Knockout HCT 116 Cell Line | EDJ-KQ26109 | Human | 7112 | Details Get a Quote |
| PRIMPOL Knockout A-549 Cell Line | EDJ-KQ27921 | Human | 201973 | Details Get a Quote |
| PRIMPOL Knockout HCT 116 Cell Line | EDJ-KQ27922 | Human | 201973 | Details Get a Quote |
| PRIMPOL Knockout HeLa Cell Line | EDJ-KQ27923 | Human | 201973 | Details Get a Quote |
| TMPO Knockout HeLa Cell Line | EDJ-KQ24760 | Human | 7112 | Details Get a Quote |
| MPO Knockout HeLa Cell Line | EDJ-KQ53899 | Human | 4353 | Details Get a Quote |
| MPO Knockout A-549 Cell Line | EDJ-KQ62390 | Human | 4353 | Details Get a Quote |
| MPO Knockout HCT 116 Cell Line | EDJ-KQ70859 | Human | 4353 | Details Get a Quote |
Displaying Records 1 To 12 Of 12 Records
