Peroxisomal biogenesis factor 2 explained

Peroxisomal biogenesis factor 2 is a protein that in humans is encoded by the PEX2 gene.^{[1] [2]}

This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein.^[2]

Further reading

• Distel B, Erdmann R, Gould SJ, etal . A unified nomenclature for peroxisome biogenesis factors. . J. Cell Biol. . 135 . 1 . 1–3 . 1996 . 8858157 . 10.1083/jcb.135.1.1 . 2121017 .
• Patarca R, Fletcher MA . Ring finger in the peroxisome assembly factor-1. . FEBS Lett. . 312 . 1 . 1–2 . 1992 . 1426230 . 10.1016/0014-5793(92)81397-5 . 45880970 .
• Tsukamoto T, Miura S, Fujiki Y . Restoration by a 35K membrane protein of peroxisome assembly in a peroxisome-deficient mammalian cell mutant. . Nature . 350 . 6313 . 77–81 . 1991 . 1750930 . 10.1038/350077a0 . 1991Natur.350...77T . 4260994 .
• Brul S, Westerveld A, Strijland A, etal . Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis. . J. Clin. Invest. . 81 . 6 . 1710–5 . 1988 . 2454948 . 10.1172/JCI113510 . 442615 .
• Berteaux-Lecellier V, Picard M, Thompson-Coffe C, etal . A nonmammalian homolog of the PAF1 gene (Zellweger syndrome) discovered as a gene involved in caryogamy in the fungus Podospora anserina. . Cell . 81 . 7 . 1043–51 . 1995 . 7600573 . 10.1016/S0092-8674(05)80009-1 . free .
• Masuno M, Shimozawa N, Suzuki Y, etal . Assignment of the human peroxisome assembly factor-1 gene (PXMP3) responsible for Zellweger syndrome to chromosome 8q21.1 by fluorescence in situ hybridization. . Genomics . 20 . 1 . 141–2 . 1994 . 8020947 . 10.1006/geno.1994.1144 .
• Shimozawa N, Suzuki Y, Tomatsu S, etal . A novel mutation, R125X in peroxisome assembly factor-1 responsible for Zellweger syndrome. . Hum. Mutat. . Suppl 1 . S134–6 . 1999 . 9452066 . 10.1002/humu.1380110145 . 38274040 . free .
• Gärtner J, Brosius U, Obie C, etal . Restoration of PEX2 peroxisome assembly defects by overexpression of PMP70. . Eur. J. Cell Biol. . 76 . 4 . 237–45 . 1998 . 9765053 . 10.1016/s0171-9335(98)80001-0.
• Shimozawa N, Imamura A, Zhang Z, etal . Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders. . J. Med. Genet. . 36 . 10 . 779–81 . 1999 . 10528859 . 10.1136/jmg.36.10.779. 1734244 .
• Okumoto K, Abe I, Fujiki Y . Molecular anatomy of the peroxin Pex12p: ring finger domain is essential for Pex12p function and interacts with the peroxisome-targeting signal type 1-receptor Pex5p and a ring peroxin, Pex10p. . J. Biol. Chem. . 275 . 33 . 25700–10 . 2000 . 10837480 . 10.1074/jbc.M003303200 . free .
• Biermanns M, Gärtner J . Genomic organization and characterization of human PEX2 encoding a 35-kDa peroxisomal membrane protein. . Biochem. Biophys. Res. Commun. . 273 . 3 . 985–90 . 2000 . 10891359 . 10.1006/bbrc.2000.3039 .
• Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Biermanns M, von Laar J, Brosius U, Gärtner J . The peroxisomal membrane targeting elements of human peroxin 2 (PEX2). . Eur. J. Cell Biol. . 82 . 4 . 155–62 . 2003 . 12751901 . 10.1078/0171-9335-00310 .
• Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
• Steinberg S, Chen L, Wei L, etal . The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. . Mol. Genet. Metab. . 83 . 3 . 252–63 . 2005 . 15542397 . 10.1016/j.ymgme.2004.08.008 .
• Stelzl U, Worm U, Lalowski M, etal . A human protein-protein interaction network: a resource for annotating the proteome. . Cell . 122 . 6 . 957–68 . 2005 . 16169070 . 10.1016/j.cell.2005.08.029 . free . 11858/00-001M-0000-0010-8592-0 . free .
• Rual JF, Venkatesan K, Hao T, etal . Towards a proteome-scale map of the human protein-protein interaction network. . Nature . 437 . 7062 . 1173–8 . 2005 . 16189514 . 10.1038/nature04209 . 2005Natur.437.1173R . 4427026 .
• Kimura K, Wakamatsu A, Suzuki Y, etal . Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. . Genome Res. . 16 . 1 . 55–65 . 2006 . 16344560 . 10.1101/gr.4039406 . 1356129 .

External links

• GeneReviews/NCBI/NIH/UW entry on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
• OMIM entries on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum

Notes and References

1. Shimozawa N, Tsukamoto T, Suzuki Y, Orii T, Shirayoshi Y, Mori T, Fujiki Y . A human gene responsible for Zellweger syndrome that affects peroxisome assembly . Science . 255 . 5048 . 1132–4 . Apr 1992 . 1546315 . 10.1126/science.1546315 . 1992Sci...255.1132S .
2. Web site: Entrez Gene: PXMP3 peroxisomal membrane protein 3, 35kDa (Zellweger syndrome).