PXDN explained

Peroxidasin homolog is a protein that in humans is encoded by the PXDN gene.^{[1] [2] [3]}

Peroxidasin requires ionic bromine as a co-factor, making bromine an essential element for human life.^[4]

Clinical significance

Mutations in PXDN are associated with microphthalmia.^[5]

Further reading

• Weiler SR, Taylor SM, Deans RJ, Kan-Mitchell J, Mitchell MS, Trent JM . Assignment of a human melanoma associated gene MG50 (D2S448) to chromosome 2p25.3 by fluorescence in situ hybridization . Genomics . 22 . 1 . 243–4 . 1994 . 7959781 . 10.1006/geno.1994.1374 . 2027.42/31471 . free .
• Mitchell MS, Kan-Mitchell J, Minev B, Edman C, Deans RJ . 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 . 2000 . 11103812 .
• Xu YC, Wu RF, Gu Y, Yang YS, Yang MC, Nwariaku FE, Terada LS . Involvement of TRAF4 in oxidative activation of c-Jun N-terminal kinase . J. Biol. Chem. . 277 . 31 . 28051–7 . 2002 . 12023963 . 10.1074/jbc.M202665200 . free .
• 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 . Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation . Nat. Biotechnol. . 22 . 6 . 707–16 . 2005 . 15146197 . 10.1038/nbt971 . 27764390 .
• 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 . Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes . Genome Res. . 16 . 1 . 55–65 . 2006 . 16344560 . 1356129 . 10.1101/gr.4039406 .

Notes and References

1. Horikoshi N, Cong J, Kley N, Shenk T . 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 . Sep 1999 . 10441517 . 10.1006/bbrc.1999.1123 .
2. Nagase T, Seki N, Ishikawa K, Ohira M, Kawarabayasi Y, Ohara O, Tanaka A, Kotani H, Miyajima N, Nomura N . 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 . May 1997 . 9039502 . 10.1093/dnares/3.5.321 . free .
3. Web site: Entrez Gene: PXDN peroxidasin homolog (Drosophila).
4. McCall AS, Cummings CF, Bhave G, Vanacore R, Page-McCaw A, Hudson BG . Bromine is an essential trace element for assembly of collagen IV scaffolds in tissue development and architecture . Cell . 157 . 6 . 1380–92 . June 2014 . 24906154 . 4144415 . 10.1016/j.cell.2014.05.009 .
5. Choi A, Lao R, Ling-Fung Tang P, Wan E, Mayer W, Bardakjian T, Shaw GM, Kwok PY, Schneider A, Slavotinek A . Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis . European Journal of Human Genetics . 2014 . 24939590 . 10.1038/ejhg.2014.119 . 23 . 3 . 337–41 . 4326713.