Gene Symbol: Pex5
Description: peroxisomal biogenesis factor 5
Alias: AW212715, ESTM1, PTS1-BP, PTS1R, PXR1P, Pxr1, X83306, peroxisomal targeting signal 1 receptor, peroxisomal biogenesis factor 5, PTS1 receptor, peroxin 5, peroxisomal C-terminal targeting signal import receptor, peroxisome biogenesis factor 5, peroxisome receptor 1
Species: mouse
Products:     Pex5

Top Publications

  1. Baes M, Dewerchin M, Janssen A, Collen D, Carmeliet P. Generation of Pex5-loxP mice allowing the conditional elimination of peroxisomes. Genesis. 2002;32:177-8 pubmed
  2. Kassmann C, Lappe Siefke C, Baes M, Brugger B, Mildner A, Werner H, et al. Axonal loss and neuroinflammation caused by peroxisome-deficient oligodendrocytes. Nat Genet. 2007;39:969-76 pubmed
    ..By selectively inactivating the import factor PEX5 in myelinating glia, we generated mutant mice that developed normally, but within several months showed ataxia, ..
  3. Bottelbergs A, Verheijden S, Hulshagen L, Gutmann D, Goebbels S, Nave K, et al. Axonal integrity in the absence of functional peroxisomes from projection neurons and astrocytes. Glia. 2010;58:1532-43 pubmed publisher
    Ablation of functional peroxisomes from all neural cells in Nestin-Pex5 knockout mice caused remarkable neurological abnormalities including motoric and cognitive malfunctioning accompanied by demyelination, axonal degeneration, and ..
  4. Hulshagen L, Krysko O, Bottelbergs A, Huyghe S, Klein R, Van Veldhoven P, et al. Absence of functional peroxisomes from mouse CNS causes dysmyelination and axon degeneration. J Neurosci. 2008;28:4015-27 pubmed publisher
    ..We now report that a substantial fraction of the latter Nes-Pex5 knock-out mice survive into adulthood but develop progressive motoric and coordination problems, impaired ..
  5. Braverman N, Dodt G, Gould S, Valle D. An isoform of pex5p, the human PTS1 receptor, is required for the import of PTS2 proteins into peroxisomes. Hum Mol Genet. 1998;7:1195-205 pubmed
    ..the nonsense mutation R390ter) are defective in the import of both PTS1 and PTS2 proteins, suggesting that the PTS1 receptor also mediates PTS2-targeted protein import...
  6. Amery L, Sano H, Mannaerts G, Snider J, Van Looy J, Fransen M, et al. Identification of PEX5p-related novel peroxisome-targeting signal 1 (PTS1)-binding proteins in mammals. Biochem J. 2001;357:635-46 pubmed
    ..PEX5Rp did not bind to Pex14p or to the RING finger motif of Pex12p, and could not restore PTS1 protein import in Pex5(-/-) mouse fibroblasts...
  7. Janssen A, Baes M, Gressens P, Mannaerts G, Declercq P, Van Veldhoven P. Docosahexaenoic acid deficit is not a major pathogenic factor in peroxisome-deficient mice. Lab Invest. 2000;80:31-5 pubmed
    ..The purpose of this study was to investigate (a) whether DHA levels were also reduced in newborn PEX5 knockout mice, the mouse model of Zellweger syndrome that we recently generated; (b) whether these levels could be ..
  8. Bottelbergs A, Verheijden S, Van Veldhoven P, Just W, DeVos R, Baes M. Peroxisome deficiency but not the defect in ether lipid synthesis causes activation of the innate immune system and axonal loss in the central nervous system. J Neuroinflammation. 2012;9:61 pubmed publisher
    Mice with peroxisome deficiency in neural cells (Nestin-Pex5-/-) develop a neurodegenerative phenotype leading to motor and cognitive disabilities and early death...
  9. Kassmann C, Quintes S, Rietdorf J, Mobius W, Sereda M, Nientiedt T, et al. A role for myelin-associated peroxisomes in maintaining paranodal loops and axonal integrity. FEBS Lett. 2011;585:2205-11 pubmed publisher
    ..When peroxisome biogenesis is experimentally perturbed in Pex5 conditional mouse mutants, myelination by Schwann cells appears initially normal...

More Information


  1. Baumgart E, Vanhorebeek I, Grabenbauer M, Borgers M, Declercq P, Fahimi H, et al. Mitochondrial alterations caused by defective peroxisomal biogenesis in a mouse model for Zellweger syndrome (PEX5 knockout mouse). Am J Pathol. 2001;159:1477-94 pubmed
    ..organ dysfunctions in Zellweger syndrome, we have recently developed a knockout-mouse model by disrupting the PEX5 gene, encoding the targeting receptor for most peroxisomal matrix proteins (M Baes, P Gressens, E Baumgart, P ..
  2. Bjorkman J, Gould S, Crane D. Pex13, the mouse ortholog of the human peroxisome biogenesis disorder PEX13 gene: gene structure, tissue expression, and localization of the protein to peroxisomes. Genomics. 2002;79:162-8 pubmed
    ..We infer from these findings that targeted disruption of mouse Pex13 would provide an appropriate model for the study of PEX13 dysfunction in humans. ..
  3. Schrader M, Fahimi H. Mammalian peroxisomes and reactive oxygen species. Histochem Cell Biol. 2004;122:383-93 pubmed
    ..In PEX5-/- knockout mice lacking functional peroxisomes severe alterations of mitochondria in various organs are observed ..
  4. Dirkx R, Vanhorebeek I, Martens K, Schad A, Grabenbauer M, Fahimi D, et al. Absence of peroxisomes in mouse hepatocytes causes mitochondrial and ER abnormalities. Hepatology. 2005;41:868-78 pubmed
    ..the present study, a mouse model with hepatocyte-selective elimination of peroxisomes was generated by inbreeding Pex5-loxP and albumin-Cre mice to investigate the consequences of peroxisome deletion on the functioning of hepatocytes...
  5. Shepard A, Jacobson N, Millar J, Pang I, Steely H, Searby C, et al. Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure. Hum Mol Genet. 2007;16:609-17 pubmed
    ..gain-of-function association between human myocilin and the peroxisomal targeting signal type 1 receptor (PTS1R)...
  6. Yakunin E, Moser A, Loeb V, Saada A, Faust P, Crane D, et al. alpha-Synuclein abnormalities in mouse models of peroxisome biogenesis disorders. J Neurosci Res. 2010;88:866-76 pubmed publisher
    ..Here we utilized the PBD mouse models Pex2-/-, Pex5-/-, and Pex13-/- to study the potential effects of peroxisomal dysfunction on alphaS-related pathogenesis...
  7. Baes M, Gressens P, Baumgart E, Carmeliet P, Casteels M, Fransen M, et al. A mouse model for Zellweger syndrome. Nat Genet. 1997;17:49-57 pubmed
    ..We generated a Zellweger animal model through inactivation of the murine Pxr1 gene (formally known as Pex5) that encodes the import receptor for most peroxisomal matrix proteins...
  8. Huyghe S, Schmalbruch H, De Gendt K, Verhoeven G, Guillou F, Van Veldhoven P, et al. Peroxisomal multifunctional protein 2 is essential for lipid homeostasis in Sertoli cells and male fertility in mice. Endocrinology. 2006;147:2228-36 pubmed
    ..mice with a Sertoli cell-selective elimination of peroxisomes through cell type-specific inactivation of the peroxin 5 gene...
  9. Hogenboom S, Romeijn G, Houten S, Baes M, Wanders R, Waterham H. Absence of functional peroxisomes does not lead to deficiency of enzymes involved in cholesterol biosynthesis. J Lipid Res. 2002;43:90-8 pubmed
    ..we determined activities and levels of selected enzymes involved in cholesterol biosynthesis in livers of PEX5 knockout mice, a well-characterized model for human Zellweger syndrome...
  10. Dirkx R, Meyhi E, Asselberghs S, Reddy J, Baes M, Van Veldhoven P. Beta-oxidation in hepatocyte cultures from mice with peroxisomal gene knockouts. Biochem Biophys Res Commun. 2007;357:718-23 pubmed
    ..More surprisingly, dicarboxylic fatty acid oxidation was impaired in MFP-1 but not in MFP-2 knockout hepatocytes, indicating that MFP-1 might play more than an obsolete role in peroxisomal beta-oxidation. ..
  11. Janssen A, Gressens P, Grabenbauer M, Baumgart E, Schad A, Vanhorebeek I, et al. Neuronal migration depends on intact peroxisomal function in brain and in extraneuronal tissues. J Neurosci. 2003;23:9732-41 pubmed
    ..Peroxisomes were selectively reconstituted either in brain or liver of Pex5 knock-out mice, a model for Zellweger syndrome, by tissue-selective overexpression of Pex5p...
  12. Vanhorebeek I, Baes M, Declercq P. Isoprenoid biosynthesis is not compromised in a Zellweger syndrome mouse model. Biochim Biophys Acta. 2001;1532:28-36 pubmed
    ..availability of isoprenoids could be one of the pathogenic factors contributing to the severe phenotype of the Pex5(-/-) mouse, a model for Zellweger syndrome...
  13. Nordgren M, Francisco T, Lismont C, Hennebel L, Brees C, Wang B, et al. Export-deficient monoubiquitinated PEX5 triggers peroxisome removal in SV40 large T antigen-transformed mouse embryonic fibroblasts. Autophagy. 2015;11:1326-40 pubmed publisher
    ..In this study, we show that PEX5 proteins fused to a bulky C-terminal tag trigger peroxisome degradation in SV40 large T antigen-transformed mouse ..
  14. Freitas M, Francisco T, Rodrigues T, Alencastre I, Pinto M, Grou C, et al. PEX5 protein binds monomeric catalase blocking its tetramerization and releases it upon binding the N-terminal domain of PEX14. J Biol Chem. 2011;286:40509-19 pubmed publisher
    Newly synthesized peroxisomal matrix proteins are targeted to the organelle by PEX5. PEX5 has a dual role in this process. First, it acts as a soluble receptor recognizing these proteins in the cytosol...
  15. Martens K, Bottelbergs A, Baes M. Ectopic recombination in the central and peripheral nervous system by aP2/FABP4-Cre mice: implications for metabolism research. FEBS Lett. 2010;584:1054-8 pubmed publisher
    ..Because these tissues have an important impact on adipose tissue, care should be taken when using aP2-Cre mice to define the role of the targeted genes in adipose tissue function...
  16. Huyghe S, Casteels M, Janssen A, Meulders L, Mannaerts G, Declercq P, et al. Prenatal and postnatal development of peroxisomal lipid-metabolizing pathways in the mouse. Biochem J. 2001;353:673-80 pubmed
    ..In mouse embryos lacking functional peroxisomes (PEX5(-/-) knock-out), a deficiency of plasmalogens and an accumulation of the very-long-chain fatty acid C(26:0) was ..
  17. Infante J, Huszagh V. Zellweger syndrome knockout mouse models challenge putative peroxisomal beta-oxidation involvement in docosahexaenoic acid (22:6n-3) biosynthesis. Mol Genet Metab. 2001;72:1-7 pubmed
    ..These mice were generated by targeted disruption of the PEX2 and PEX5 peroxisomal assembly genes encoding targeting signal receptor peroxins for the recognition and transport of a set ..
  18. Martens K, Bottelbergs A, Peeters A, Jacobs F, Espeel M, Carmeliet P, et al. Peroxisome deficient aP2-Pex5 knockout mice display impaired white adipocyte and muscle function concomitant with reduced adrenergic tone. Mol Genet Metab. 2012;107:735-47 pubmed publisher
    ..We recently generated aP2-Pex5 conditional knockout mice that due to the nonselectivity of the aP2 promoter, not only had dysfunctional ..
  19. Kleinecke S, Richert S, de Hoz L, Brügger B, Kungl T, Asadollahi E, et al. Peroxisomal dysfunctions cause lysosomal storage and axonal Kv1 channel redistribution in peripheral neuropathy. elife. 2017;6: pubmed publisher
    ..Surprisingly, nerves of Schwann cell-specific Pex5 mutant mice were unaltered regarding axon numbers, axonal calibers, and myelin sheath thickness by electron ..
  20. Peeters A, Fraisl P, van den Berg S, Ver Loren van Themaat E, van Kampen A, Rider M, et al. Carbohydrate metabolism is perturbed in peroxisome-deficient hepatocytes due to mitochondrial dysfunction, AMP-activated protein kinase (AMPK) activation, and peroxisome proliferator-activated receptor ? coactivator 1? (PGC-1?) suppression. J Biol Chem. 2011;286:42162-79 pubmed publisher
    ..Through unresolved mechanisms, deletion of functional peroxisomes from mouse hepatocytes (L-Pex5(-/-) mice) causes severe structural and functional abnormalities at the inner mitochondrial membrane...
  21. Peeters A, Shinde A, Dirkx R, Smet J, De Bock K, Espeel M, et al. Mitochondria in peroxisome-deficient hepatocytes exhibit impaired respiration, depleted DNA, and PGC-1α independent proliferation. Biochim Biophys Acta. 2015;1853:285-98 pubmed publisher
    ..Here we investigated the molecular impairments of the dysfunctional mitochondria in hepatocyte selective Pex5 knockout mice...