PXDN

Peroxidasin homolog is a protein that in humans is encoded by the PXDN gene.[5][6][7]

PXDN
Identifiers
Aliases	PXDN, COPOA, D2S448, D2S448E, MG50, PRG2, PXN, VPO, peroxidasin, ASGD7
External IDs	OMIM: 605158 MGI: 1916925 HomoloGene: 33907 GeneCards: PXDN
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2p25.3 Start 1,631,887 bp[1] End 1,744,852 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12|12 A2 Start 29,937,608 bp[2] End 30,017,658 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • oxidoreductase activity • extracellular matrix structural constituent • heme binding • interleukin-1 receptor antagonist activity • metal ion binding • peroxidase activity Cellular component • extracellular matrix • proteinaceous extracellular matrix • extracellular exosome • endoplasmic reticulum • extracellular • extracellular region • collagen-containing extracellular matrix Biological process • extracellular matrix organization • oxidation-reduction process • response to oxidative stress • immune response • hydrogen peroxide catabolic process • cellular oxidant detoxification • negative regulation of cytokine-mediated signaling pathway Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	7837	69675
Ensembl	ENSG00000130508	ENSMUSG00000020674
UniProt	Q92626	Q3UQ28
RefSeq (mRNA)	NM_012293	NM_181395
RefSeq (protein)	NP_036425	NP_852060
Location (UCSC)	Chr 2: 1.63 – 1.74 Mb	Chr 12: 29.94 – 30.02 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Peroxidasin requires ionic bromine as a co-factor, making bromine an essential element for human life.[8]

Clinical significance

Mutations in PXDN are associated with microphthalmia.[9]

References

1. GRCh38: Ensembl release 89: ENSG00000130508 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000020674 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Horikoshi N, Cong J, Kley N, Shenk T (Sep 1999). "Isolation of differentially expressed cDNAs from p53-dependent apoptotic cells: activation of the human homologue of the Drosophila peroxidasin gene". Biochem Biophys Res Commun. 261 (3): 864–9. doi:10.1006/bbrc.1999.1123. PMID 10441517.
6. Nagase T, Seki N, Ishikawa K, Ohira M, Kawarabayasi Y, Ohara O, Tanaka A, Kotani H, Miyajima N, Nomura N (May 1997). "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". DNA Res. 3 (5): 321–9, 341–54. doi:10.1093/dnares/3.5.321. PMID 9039502.
7. "Entrez Gene: PXDN peroxidasin homolog (Drosophila)".
8. McCall AS, Cummings CF, Bhave G, Vanacore R, Page-McCaw A, Hudson BG (June 2014). "Bromine is an essential trace element for assembly of collagen IV scaffolds in tissue development and architecture". Cell. 157 (6): 1380–92. doi:10.1016/j.cell.2014.05.009. PMC 4144415. PMID 24906154.
9. Choi A, Lao R, Ling-Fung Tang P, Wan E, Mayer W, Bardakjian T, Shaw GM, Kwok PY, Schneider A, Slavotinek A (2014). "Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis". European Journal of Human Genetics. 23: 337–41. doi:10.1038/ejhg.2014.119. PMC 4326713. PMID 24939590.

Further reading

• Weiler SR, Taylor SM, Deans RJ, Kan-Mitchell J, Mitchell MS, Trent JM (1994). "Assignment of a human melanoma associated gene MG50 (D2S448) to chromosome 2p25.3 by fluorescence in situ hybridization" (PDF). Genomics. 22 (1): 243–4. doi:10.1006/geno.1994.1374. PMID 7959781.
• Mitchell MS, Kan-Mitchell J, Minev B, Edman C, Deans RJ (2000). "A novel melanoma gene (MG50) encoding the interleukin 1 receptor antagonist and six epitopes recognized by human cytolytic T lymphocytes". Cancer Res. 60 (22): 6448–56. PMID 11103812.
• Xu YC, Wu RF, Gu Y, Yang YS, Yang MC, Nwariaku FE, Terada LS (2002). "Involvement of TRAF4 in oxidative activation of c-Jun N-terminal kinase". J. Biol. Chem. 277 (31): 28051–7. doi:10.1074/jbc.M202665200. PMID 12023963.
• Brandenberger R, Wei H, Zhang S, Lei S, Murage J, Fisk GJ, Li Y, Xu C, Fang R, Guegler K, Rao MS, Mandalam R, Lebkowski J, Stanton LW (2005). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nat. Biotechnol. 22 (6): 707–16. doi:10.1038/nbt971. PMID 15146197.
• Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.