Peroxisomal biogenesis factor 2 is a protein that in humans is encoded by the PEX2gene.[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]
References
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Tsukamoto T, Miura S, Fujiki Y (1991). "Restoration by a 35K membrane protein of peroxisome assembly in a peroxisome-deficient mammalian cell mutant". Nature. 350 (6313): 77–81. doi:10.1038/350077a0. PMID1750930.
Berteaux-Lecellier V, Picard M, Thompson-Coffe C, et al. (1995). "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. doi:10.1016/S0092-8674(05)80009-1. PMID7600573.
Masuno M, Shimozawa N, Suzuki Y, et al. (1994). "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. doi:10.1006/geno.1994.1144. PMID8020947.
Shimozawa N, Suzuki Y, Tomatsu S, et al. (1999). "A novel mutation, R125X in peroxisome assembly factor-1 responsible for Zellweger syndrome". Hum. Mutat. Suppl 1: S134–6. doi:10.1002/humu.1380110145. PMID9452066.
Gärtner J, Brosius U, Obie C, et al. (1998). "Restoration of PEX2 peroxisome assembly defects by overexpression of PMP70". Eur. J. Cell Biol. 76 (4): 237–45. doi:10.1016/s0171-9335(98)80001-0. PMID9765053.
Okumoto K, Abe I, Fujiki Y (2000). "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. doi:10.1074/jbc.M003303200. PMID10837480.
Biermanns M, Gärtner J (2000). "Genomic organization and characterization of human PEX2 encoding a 35-kDa peroxisomal membrane protein". Biochem. Biophys. Res. Commun. 273 (3): 985–90. doi:10.1006/bbrc.2000.3039. PMID10891359.
Biermanns M, von Laar J, Brosius U, Gärtner J (2003). "The peroxisomal membrane targeting elements of human peroxin 2 (PEX2)". Eur. J. Cell Biol. 82 (4): 155–62. doi:10.1078/0171-9335-00310. PMID12751901.
Steinberg S, Chen L, Wei L, et al. (2005). "The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum". Mol. Genet. Metab. 83 (3): 252–63. doi:10.1016/j.ymgme.2004.08.008. PMID15542397.
Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. PMID16169070.
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID16189514.
