PXDN gene

peroxidasin

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Displays low peroxidase activity and is likely to participate in H(2)O(2) metabolism and peroxidative reactions in the cardiovascular system. Plays a role in extracellular matrix formation.

From NCBI Gene:

  • Corneal opacification with other ocular anomalies

From UniProt:

Corneal opacification with other ocular anomalies (COPOA): An ocular disease characterized by sclerocornea associated with other ocular anomalies, such as cataract, microcornea, microphthalmia, and anterior segment dysgenesis. Sclerocornea is a primary anomaly in which scleralization of a peripheral part of the cornea, or the entire corneal tissue, occurs. In the peripheral type of sclerocornea, the affected area is vascularized with regular arcades of superficial scleral vessels. In total sclerocornea, the entire cornea is opaque and vascularized. [MIM:269400]

Cytogenetic Location: 2p25, which is the short (p) arm of chromosome 2 at position 25

Molecular Location: base pairs 1,631,887 to 1,744,852 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2p25, which is the short (p) arm of chromosome 2 at position 25
  • COPOA
  • D2S448
  • D2S448E
  • MG50
  • PRG2
  • PXN
  • VPO