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Article

Peroxidasin is essential for eye development in the mouse.

Human molecular genetics - 1 Nov 2014

Yan Xiaohe, Sabrautzki Sibylle, Horsch Marion, Fuchs Helmut, Gailus-Durner Valerie, Beckers Johannes, Hrabě de Angelis Martin, Graw Jochen

Abstract excerpt

Mutations in Peroxidasin (PXDN) cause severe inherited eye disorders in humans, such as congenital cataract, corneal opacity and developmental glaucoma. The role of peroxidasin during eye development is poorly understood. Here, we describe the first Pxdn mouse mutant which was induced by ENU (N-ethyl-N-nitrosourea) and led to a recessive phenotype. Sequence analysis of cDNA revealed a T3816A mutation resulting in...

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Source

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Identifiers

PMID: 24895407
DOI: 10.1093/hmg/ddu274
PMCID: PMC4189897

Genes

PXDN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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