PXDN

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

PXDN
Identifiers
AliasesPXDN, COPOA, D2S448, D2S448E, MG50, PRG2, PXN, VPO, peroxidasin, ASGD7
External IDsOMIM: 605158 MGI: 1916925 HomoloGene: 33907 GeneCards: PXDN
Orthologs
SpeciesHumanMouse
Entrez

7837

69675

Ensembl

ENSG00000130508

ENSMUSG00000020674

UniProt

Q92626

Q3UQ28

RefSeq (mRNA)

NM_012293

NM_181395
NM_177804

RefSeq (protein)

NP_036425

NP_852060

Location (UCSC)Chr 2: 1.63 – 1.74 MbChr 12: 29.99 – 30.07 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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 (3): 337–41. doi:10.1038/ejhg.2014.119. PMC 4326713. PMID 24939590.

Further reading


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