Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Peroxidasin homolog

The PXDN gene excodes a heme peroxidase which is secreted extracellularilly to support the formation of an extracellular matrix. In the glomerular basement membrane it facilutates the cross links betrww NC1 domains of collagen IV chains. Therefore some sientists postulate a role in development of glomerular diseases.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Glomerular basement membrane disorders
Alport Syndrome
COL4A3
COL4A4
COL4A5
HANAC syndrome
COL4A1
COL4A2
Leiomyomatosis with Alport syndrome, Smooth muscle tumors and Alport syndrome
COL4A5
COL4A6
MYH9 related disorders
Epstein syndrome
MYH9
Fechtner syndrome
MYH9
MYH9
Sebastian syndrome
MYH9
Nail-patella syndrome
LMX1B
Nephropathy with pretibial epidermolysis bullosa and deafness
CD151
PXDN
Thin basement membrane nephropathy
COL4A3
COL4A4
COL4A5

References:

1.

Weiler SR et al. (1994) Assignment of a human melanoma associated gene MG50 (D2S448) to chromosome 2p25.3 by fluorescence in situ hybridization.

external link
2.

Nagase T et al. (1996) Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain.

external link
3.

Horikoshi N et al. (1999) Isolation of differentially expressed cDNAs from p53-dependent apoptotic cells: activation of the human homologue of the Drosophila peroxidasin gene.

external link
4.

Cheng G et al. (2008) Identification and characterization of VPO1, a new animal heme-containing peroxidase.

external link
5.

Khan K et al. (2011) Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity.

external link
6.

Khan K et al. (2011) Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma.

external link
7.

Yan X et al. (2014) Peroxidasin is essential for eye development in the mouse.

external link
8.

Choi A et al. (2015) Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.

external link
9.

Cummings CF et al. () Lens capsule as a model to study type IV collagen.

external link
10.

Cummings CF et al. (2016) Extracellular chloride signals collagen IV network assembly during basement membrane formation.

external link
11.

Fidler AL et al. (2014) A unique covalent bond in basement membrane is a primordial innovation for tissue evolution.

external link
12.

Orphanet article

Orphanet ID 285089 external link
13.

NCBI article

NCBI 7837 external link
14.

OMIM.ORG article

Omim 605158 external link
15.

Wikipedia article

Wikipedia EN (PXDN) external link
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues