Peroxisomal biogenesis factor 2
From Wikipedia, the free encyclopedia
(Redirected from PEX2)
Template:Cs1 config Template:Short description An Error has occurred retrieving Wikidata item for infobox 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]
References
Page Template:Reflist/styles.css has no content.
- ^ Page Module:Citation/CS1/styles.css has no content.Shimozawa N, Tsukamoto T, Suzuki Y, Orii T, Shirayoshi Y, Mori T, Fujiki Y (Apr 1992). "A human gene responsible for Zellweger syndrome that affects peroxisome assembly". Science. 255 (5048): 1132–4. Bibcode:1992Sci...255.1132S. doi:10.1126/science.1546315. PMID 1546315.
- ^ a b Page Module:Citation/CS1/styles.css has no content."Entrez Gene: PXMP3 peroxisomal membrane protein 3, 35kDa (Zellweger syndrome)".
Further reading
Page Template:Refbegin/styles.css has no content.
- Page Module:Citation/CS1/styles.css has no content.Distel B, Erdmann R, Gould SJ, et al. (1996). "A unified nomenclature for peroxisome biogenesis factors". J. Cell Biol. 135 (1): 1–3. doi:10.1083/jcb.135.1.1. PMC 2121017. PMID 8858157.
- Page Module:Citation/CS1/styles.css has no content.Patarca R, Fletcher MA (1992). "Ring finger in the peroxisome assembly factor-1". FEBS Lett. 312 (1): 1–2. doi:10.1016/0014-5793(92)81397-5. PMID 1426230. S2CID 45880970.
- Page Module:Citation/CS1/styles.css has no content.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. Bibcode:1991Natur.350...77T. doi:10.1038/350077a0. PMID 1750930. S2CID 4260994.
- Page Module:Citation/CS1/styles.css has no content.Brul S, Westerveld A, Strijland A, et al. (1988). "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. doi:10.1172/JCI113510. PMC 442615. PMID 2454948.
- Page Module:Citation/CS1/styles.css has no content.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. PMID 7600573.
- Page Module:Citation/CS1/styles.css has no content.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. PMID 8020947.
- Page Module:Citation/CS1/styles.css has no content.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. PMID 9452066. S2CID 38274040.
- Page Module:Citation/CS1/styles.css has no content.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. PMID 9765053.
- Page Module:Citation/CS1/styles.css has no content.Shimozawa N, Imamura A, Zhang Z, et al. (1999). "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. doi:10.1136/jmg.36.10.779. PMC 1734244. PMID 10528859.
- Page Module:Citation/CS1/styles.css has no content.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. PMID 10837480.
- Page Module:Citation/CS1/styles.css has no content.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. PMID 10891359.
- Page Module:Citation/CS1/styles.css has no content.Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Page Module:Citation/CS1/styles.css has no content.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. PMID 12751901.
- Page Module:Citation/CS1/styles.css has no content.Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Page Module:Citation/CS1/styles.css has no content.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. PMID 15542397.
- Page Module:Citation/CS1/styles.css has no content.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. hdl:11858/00-001M-0000-0010-8592-0. PMID 16169070.
- Page Module:Citation/CS1/styles.css has no content.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. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
- Page Module:Citation/CS1/styles.css has no content.Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
