Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
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
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.

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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.

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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.

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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Update: Sept. 26, 2018