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:
Related Diseases:
References:
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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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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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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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Cheng G et al. (2008) Identification and characterization of VPO1, a new animal heme-containing peroxidase.
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Khan K et al. (2011) Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity.
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Khan K et al. (2011) Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma.
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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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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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Orphanet article
Orphanet ID 285089
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NCBI article
NCBI 7837
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14. |
OMIM.ORG article
Omim 605158
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15. |
Wikipedia article
Wikipedia EN (PXDN)
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Update: Aug. 14, 2020