PXDN peroxidasin
Gene ID: 7837, updated on 10-Dec-2024Gene type: protein coding
Also known as: PXN; VPO; MG50; PRG2; ASGD7; COPOA; D2S448; D2S448E; hsPxd01
- See all available tests in GTR for this gene
- Go to complete Gene record for PXDN
- Go to Variation Viewer for PXDN variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Anterior segment dysgenesis 7 | See labs |
Genomic context
- Location:
- 2p25.3
- Sequence:
- Chromosome: 2; NC_000002.12 (1631887..1744901, complement)
- Total number of exons:
- 25
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PXDN variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.