PXDN (Peroxidasin) Gene: Function, Mutations, and Disease Associations
Comprehensive biomedical resource for PXDN, encoding a heme peroxidase involved in extracellular matrix formation and oxidative stress.
Gene Information Card
| Symbol | PXDN |
|---|---|
| Full Name | peroxidasin |
| Gene Type | protein-coding |
| Chromosomal Location | 2p25.3 |
| NCBI Gene ID | 7837 ncbi.nlm.nih.gov/gene/7837 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | Q92626 |
| OMIM ID | 605158 |
| HGNC ID | 14966 |
| Aliases | COX, D430042O09Rik, MG50, PXN, PRDX, VPO |
Description
PXDN encodes peroxidasin, a heme-containing peroxidase that catalyzes the formation of sulfilimine cross-links in collagen IV, essential for basement membrane integrity. It also functions in oxidative stress responses and is implicated in developmental disorders of the anterior eye segment.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Anterior segment dysgenesis 7 (ASGD7) | Loss-of-function mutations in PXDN disrupt collagen IV cross-linking, leading to abnormal eye development. | OMIM #269400; multiple reports in ClinVar and literature. |
| Congenital cataract | PXDN mutations cause lens opacity due to defective basement membrane formation. | ClinVar; PMID: 24606918. |
| Microcornea | Associated with PXDN variants affecting corneal development. | OMIM; PMID: 24606918. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Lung | 8.3 | Medium |
| Heart | 6.1 | Low |
| Liver | 4.7 | Low |
| Brain | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression in embryonic kidney cells |
| A549 | 9.8 | Lung carcinoma cell line |
| HeLa | 7.1 | Cervical adenocarcinoma |
| HepG2 | 5.3 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.973C>T (p.Arg325Ter) | Nonsense | Rare | Loss of function; associated with ASGD7 |
| c.1285G>A (p.Gly429Arg) | Missense | Rare | Likely damaging; reported in congenital cataract |
| c.1687delC (p.Leu563TrpfsTer28) | Frameshift | Rare | Loss of function; ClinVar pathogenic |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site mutations that truncate or destabilize the protein, leading to reduced peroxidase activity and defective collagen IV cross-linking.
Gain of Function (GOF)
No gain-of-function mutations reported for PXDN.
Dominant Negative (DN)
No dominant-negative mutations described; inheritance is typically autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004601 - peroxidase activity | • GO:0005576 - extracellular region |
| • GO:0005581 - collagen trimer | • GO:0005604 - basement membrane |
| • GO:0006979 - response to oxidative stress | • GO:0016021 - integral component of membrane |
Pathways
• Extracellular matrix organization (Reactome: R-HSA-1474244)
• Collagen IV cross-linking (Reactome: R-HSA-2168880)
• Oxidative stress response (KEGG: map04218)
Protein Summary
Peroxidasin (1476 amino acids) is a multidomain protein containing an N-terminal signal peptide, leucine-rich repeats, immunoglobulin-like domains, and a C-terminal peroxidase domain. It localizes to the extracellular matrix and uses hydrogen peroxide to form sulfilimine bonds between collagen IV monomers, stabilizing basement membranes. It also exhibits antimicrobial activity and is involved in cellular redox balance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PXDN Knockout HEK293 Cell Line | EDJ-KQ3127 | Human | 7837 | Details Get a Quote |
| PXDNL Knockout HEK293 Cell Line | EDJ-KQ9399 | Human | 137902 | Details Get a Quote |
| PXDN Knockout A-549 Cell Line | EDJ-KQ24490 | Human | 7837 | Details Get a Quote |
| PXDN Knockout HCT 116 Cell Line | EDJ-KQ24491 | Human | 7837 | Details Get a Quote |
| PXDN Knockout HeLa Cell Line | EDJ-KQ24492 | Human | 7837 | Details Get a Quote |
| PXDNL Knockout HeLa Cell Line | EDJ-KQ58380 | Human | 137902 | Details Get a Quote |
| PXDNL Knockout A-549 Cell Line | EDJ-KQ66868 | Human | 137902 | Details Get a Quote |
| PXDNL Knockout HCT 116 Cell Line | EDJ-KQ75270 | Human | 137902 | Details Get a Quote |
| PXDN Knockout B-3 Cell Line | EDC07585 | Human | 7837 | Details Get a Quote |
| PXDN Overexpression B-3 Stable Cell Line | EDC01487 | Human | 7837 | Details Get a Quote |
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