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Gene Review

PEX2  -  peroxisomal biogenesis factor 2

Homo sapiens

Synonyms: 35 kDa peroxisomal membrane protein, PAF-1, PAF1, PBD5A, PBD5B, ...
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Disease relevance of PXMP3


High impact information on PXMP3


Biological context of PXMP3


Anatomical context of PXMP3

  • This allowed us to identify point mutations of PAF-1 in two peroxisomal mutant cell lines [12].
  • Molecular mechanism of detectable catalase-containing particles, peroxisomes, in fibroblasts from a PEX2-defective patient [13].
  • Mutations in this targeting motif mislocalize PEX2 to the cytosol [14].
  • We expressed various deletion constructs of PEX2 in fusion with the green fluorescent protein in COS-7 cells and determined their intracellular localization [14].
  • PEX2 is synthesized on free cytosolic ribosomes and is posttranslationally imported into the peroxisome membrane by specific targeting information [14].

Associations of PXMP3 with chemical compounds

  • These observations indicate that an amino acid substitution, cysteine-258 to tyrosine, in the RING finger motif of PEX2 protein, whose function is required for peroxisomal localizations of both PTS1- and PTS2-containing proteins, results in a complete defect in the PTS1 pathway but not in the PTS2 pathway [15].
  • We report here data on three PBD patients with newly identified mutations (del550C and del642G) in the PEX2 gene which encodes a 35-kDa peroxisomal membrane protein containing two membrane-spanning and a C-terminal cysteine-rich region [13].
  • In addition, peroxisomal-deficient Pex2 CHO cell mutants display reduced HMG-CoA reductase levels and have reduced rates of sterol and nonsterol biosynthesis [16].

Other interactions of PXMP3

  • The first, functional complementation, was established as a viable approach by Fujiki and colleagues, who identified PAF-1, the first known peroxisome biogenesis disorder gene [17].
  • In addition, the C3HC4 motif and two of the three membrane-spanning segments predicted for Per6p align with the C3HC4 motifs and the two membrane-spanning segments predicted for PAF-1 and car1 [1].
  • Ring finger in the peroxisome assembly factor-1 [10].
  • We identified nine genetic complementation groups of these disorders, and mutations in peroxisome assembly factor-1 (PAF-1) and the 70-kD peroxisomal membrane protein (PMP70) genes have been detected by our group F and Roscher's group 1, respectively [18].

Analytical, diagnostic and therapeutic context of PXMP3

  • Sequence analysis of their PEX2 genes revealed 4 different mutations, 3 of which have not been reported before [19].


  1. The Pichia pastoris PER6 gene product is a peroxisomal integral membrane protein essential for peroxisome biogenesis and has sequence similarity to the Zellweger syndrome protein PAF-1. Waterham, H.R., de Vries, Y., Russel, K.A., Xie, W., Veenhuis, M., Cregg, J.M. Mol. Cell. Biol. (1996) [Pubmed]
  2. PEX11 beta deficiency is lethal and impairs neuronal migration but does not abrogate peroxisome function. Li, X., Baumgart, E., Morrell, J.C., Jimenez-Sanchez, G., Valle, D., Gould, S.J. Mol. Cell. Biol. (2002) [Pubmed]
  3. A nonmammalian homolog of the PAF1 gene (Zellweger syndrome) discovered as a gene involved in caryogamy in the fungus Podospora anserina. Berteaux-Lecellier, V., Picard, M., Thompson-Coffe, C., Zickler, D., Panvier-Adoutte, A., Simonet, J.M. Cell (1995) [Pubmed]
  4. A human gene responsible for Zellweger syndrome that affects peroxisome assembly. Shimozawa, N., Tsukamoto, T., Suzuki, Y., Orii, T., Shirayoshi, Y., Mori, T., Fujiki, Y. Science (1992) [Pubmed]
  5. Multiple PEX genes are required for proper subcellular distribution and stability of Pex5p, the PTS1 receptor: evidence that PTS1 protein import is mediated by a cycling receptor. Dodt, G., Gould, S.J. J. Cell Biol. (1996) [Pubmed]
  6. Ctk Complex-Mediated Regulation of Histone Methylation by COMPASS. Wood, A., Shukla, A., Schneider, J., Lee, J.S., Stanton, J.D., Dzuiba, T., Swanson, S.K., Florens, L., Washburn, M.P., Wyrick, J., Bhaumik, S.R., Shilatifard, A. Mol. Cell. Biol. (2007) [Pubmed]
  7. Isolation, characterization and mutation analysis of PEX13-defective Chinese hamster ovary cell mutants. Toyama, R., Mukai, S., Itagaki, A., Tamura, S., Shimozawa, N., Suzuki, Y., Kondo, N., Wanders, R.J., Fujiki, Y. Hum. Mol. Genet. (1999) [Pubmed]
  8. Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders. Shimozawa, N., Imamura, A., Zhang, Z., Suzuki, Y., Orii, T., Tsukamoto, T., Osumi, T., Fujiki, Y., Wanders, R.J., Besley, G., Kondo, N. J. Med. Genet. (1999) [Pubmed]
  9. Assignment of the human peroxisome assembly factor-1 gene (PXMP3) responsible for Zellweger syndrome to chromosome 8q21.1 by fluorescence in situ hybridization. Masuno, M., Shimozawa, N., Suzuki, Y., Kondo, N., Orii, T., Tsukamoto, T., Osumi, T., Fujiki, Y., Imaizumi, K., Kuroki, Y. Genomics (1994) [Pubmed]
  10. Ring finger in the peroxisome assembly factor-1. Patarca, R., Fletcher, M.A. FEBS Lett. (1992) [Pubmed]
  11. Genomic organization and characterization of human PEX2 encoding a 35-kDa peroxisomal membrane protein. Biermanns, M., Gärtner, J. Biochem. Biophys. Res. Commun. (2000) [Pubmed]
  12. Peroxisome-deficient Chinese hamster ovary cells with point mutations in peroxisome assembly factor-1. Thieringer, R., Raetz, C.R. J. Biol. Chem. (1993) [Pubmed]
  13. Molecular mechanism of detectable catalase-containing particles, peroxisomes, in fibroblasts from a PEX2-defective patient. Shimozawa, N., Zhang, Z., Imamura, A., Suzuki, Y., Fujiki, Y., Tsukamoto, T., Osumi, T., Aubourg, P., Wanders, R.J., Kondo, N. Biochem. Biophys. Res. Commun. (2000) [Pubmed]
  14. The peroxisomal membrane targeting elements of human peroxin 2 (PEX2). Biermanns, M., von Laar, J., Brosius, U., Gärtner, J. Eur. J. Cell Biol. (2003) [Pubmed]
  15. A missense mutation in the RING finger motif of PEX2 protein disturbs the import of peroxisome targeting signal 1 (PTS1)-containing protein but not the PTS2-containing protein. Huang, Y., Ito, R., Miura, S., Hashimoto, T., Ito, M. Biochem. Biophys. Res. Commun. (2000) [Pubmed]
  16. Role of peroxisomes in isoprenoid biosynthesis. Aboushadi, N., Engfelt, W.H., Paton, V.G., Krisans, S.K. J. Histochem. Cytochem. (1999) [Pubmed]
  17. From expressed sequence tags to peroxisome biogenesis disorder genes. Dodt, G., Braverman, N., Valle, D., Gould, S.J. Ann. N. Y. Acad. Sci. (1996) [Pubmed]
  18. Correction by gene expression of biochemical abnormalities in fibroblasts from Zellweger patients. Shimozawa, N., Suzuki, Y., Tomatsu, S., Tsukamoto, T., Osumi, T., Fujiki, Y., Kamijo, K., Hashimoto, T., Kondo, N., Orii, T. Pediatr. Res. (1996) [Pubmed]
  19. Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder. Gootjes, J., Elpeleg, O., Eyskens, F., Mandel, H., Mitanchez, D., Shimozawa, N., Suzuki, Y., Waterham, H.R., Wanders, R.J. Pediatr. Res. (2004) [Pubmed]
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