PXDN Gene Summary [Human]
This gene encodes a heme-containing peroxidase that is secreted into the extracellular matrix. It is involved in extracellular matrix formation, and may function in the physiological and pathological fibrogenic response in fibrotic kidney. Mutations in this gene cause corneal opacification and other ocular anomalies, and also microphthalmia and anterior segment dysgenesis. [provided by RefSeq, Aug 2014]
Details
| Type | Protein Coding |
| Official Symbol | PXDN |
| Official Name | peroxidasin [Source:HGNC Symbol;Acc:HGNC:14966] |
| Ensembl ID | ENSG00000130508 |
| Bio databases IDs | |
| Aliases | peroxidasin |
| Synonyms | 2310075M15Rik, ASGD7, C85409, COPOA, D2S448, D2S448E, E330004E07, hsPxd01, LOC314016, MG50, mKIAA0230, Perc64, Peroxidasin, PRG2, PXN, VPO, VPO1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PXDN often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Leucine-rich repeats, outliers
- Leucine-rich repeats, typical (most populated) subfamily
- immunoglobulin domain
- Immunoglobulin I-set domain
- extracellular matrix structural constituent
- Leucine rich repeat
- Animal haem peroxidase
- Leucine rich repeat C-terminal domain
- enzyme
- Animal heme peroxidases and related proteins
- heme binding
- Leucine Rich repeats (2 copies)
- von Willebrand factor type C domain
- peroxidase
- laminin binding
- Immunoglobulin like
- Immunoglobulin V-set domain
- peroxide acceptor oxidoreductase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- corneal opacification and other ocular anomalies
- nonalcoholic fatty liver disease
- COVID-19
- systemic lupus erythematosus
- keratocystic odontogenic tumor
- keratocystic odontogenic tumors
- chronic lymphocytic leukemia
- pancreatic cancer
- ductal breast carcinoma
- ductal breast cancer
role in cell
- recruitment
- expression in
- production in
- growth
- adhesion
- assembly
- organization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- cell surface
- Endoplasmic Reticulum
- extracellular matrix
- exosomes
- basement membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PXDN gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein homooligomerization
- cell adhesion
- hydrogen peroxide catabolic process
- negative regulation of cytokine-mediated signaling pathway
- response to oxidative stress
- eye development
- immune response
- angiogenesis
- extracellular matrix organization
- basement membrane assembly
- basement membrane organization
- collagen fibril organization
- protein homotrimerization
Cellular Component
Where in the cell the gene product is active
- extracellular space
- basement membrane
- extracellular vesicular exosome
- endoplasmic reticulum
- extracellular matrix
- extracellular region
- cell surface
Molecular Function
What the gene product does at the molecular level
- peroxidase activity
- metal ion binding
- interleukin-1 receptor antagonist activity
- oxidoreductase activity, acting on peroxide as acceptor
- laminin-1 binding
- extracellular matrix structural constituent
- heme binding