Gene: PXDN

Alternate names for this Gene: ASGD7|COPOA|D2S448|D2S448E|MG50|PRG2|PXN|VPO

Gene 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2p25.3

Description of this Gene: peroxidasin

Type of Gene: protein-coding

rs587777572 in PXDN gene and ANTERIOR SEGMENT DYSGENESIS 7 PMID 21907015 2011 Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma.

rs34008669 in PXDN gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs73178769 in PXDN gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.