PXMP3

Peroxisomal membrane protein 3, also known as PXMP3, is a human gene.cite web | title = Entrez Gene: PXMP3 peroxisomal membrane protein 3, 35kDa (Zellweger syndrome)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5828| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: PXMP3 peroxisomal membrane protein 3, 35kDa (Zellweger syndrome)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5828| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Distel B, Erdmann R, Gould SJ, "et al." |title=A unified nomenclature for peroxisome biogenesis factors. |journal=J. Cell Biol. |volume=135 |issue= 1 |pages= 1–3 |year= 1996 |pmid= 8858157 |doi=
*cite journal | author=Patarca R, Fletcher MA |title=Ring finger in the peroxisome assembly factor-1. |journal=FEBS Lett. |volume=312 |issue= 1 |pages= 1–2 |year= 1992 |pmid= 1426230 |doi=
*cite journal | author=Shimozawa N, Tsukamoto T, Suzuki Y, "et al." |title=A human gene responsible for Zellweger syndrome that affects peroxisome assembly. |journal=Science |volume=255 |issue= 5048 |pages= 1132–4 |year= 1992 |pmid= 1546315 |doi=
*cite journal | author=Tsukamoto T, Miura S, Fujiki Y |title=Restoration by a 35K membrane protein of peroxisome assembly in a peroxisome-deficient mammalian cell mutant. |journal=Nature |volume=350 |issue= 6313 |pages= 77–81 |year= 1991 |pmid= 1750930 |doi= 10.1038/350077a0
*cite journal | author=Brul S, Westerveld A, Strijland A, "et al." |title=Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis. |journal=J. Clin. Invest. |volume=81 |issue= 6 |pages= 1710–5 |year= 1988 |pmid= 2454948 |doi=
*cite journal | author=Berteaux-Lecellier V, Picard M, Thompson-Coffe C, "et al." |title=A nonmammalian homolog of the PAF1 gene (Zellweger syndrome) discovered as a gene involved in caryogamy in the fungus Podospora anserina. |journal=Cell |volume=81 |issue= 7 |pages= 1043–51 |year= 1995 |pmid= 7600573 |doi=
*cite journal | author=Masuno M, Shimozawa N, Suzuki Y, "et al." |title=Assignment of the human peroxisome assembly factor-1 gene (PXMP3) responsible for Zellweger syndrome to chromosome 8q21.1 by fluorescence in situ hybridization. |journal=Genomics |volume=20 |issue= 1 |pages= 141–2 |year= 1994 |pmid= 8020947 |doi= 10.1006/geno.1994.1144
*cite journal | author=Shimozawa N, Suzuki Y, Tomatsu S, "et al." |title=A novel mutation, R125X in peroxisome assembly factor-1 responsible for Zellweger syndrome. |journal=Hum. Mutat. |volume=Suppl 1 |issue= |pages= S134–6 |year= 1999 |pmid= 9452066 |doi=
*cite journal | author=Gärtner J, Brosius U, Obie C, "et al." |title=Restoration of PEX2 peroxisome assembly defects by overexpression of PMP70. |journal=Eur. J. Cell Biol. |volume=76 |issue= 4 |pages= 237–45 |year= 1998 |pmid= 9765053 |doi=
*cite journal | author=Shimozawa N, Imamura A, Zhang Z, "et al." |title=Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders. |journal=J. Med. Genet. |volume=36 |issue= 10 |pages= 779–81 |year= 1999 |pmid= 10528859 |doi=
*cite journal | author=Okumoto K, Abe I, Fujiki Y |title=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. |journal=J. Biol. Chem. |volume=275 |issue= 33 |pages= 25700–10 |year= 2000 |pmid= 10837480 |doi= 10.1074/jbc.M003303200
*cite journal | author=Biermanns M, Gärtner J |title=Genomic organization and characterization of human PEX2 encoding a 35-kDa peroxisomal membrane protein. |journal=Biochem. Biophys. Res. Commun. |volume=273 |issue= 3 |pages= 985–90 |year= 2000 |pmid= 10891359 |doi= 10.1006/bbrc.2000.3039
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Biermanns M, von Laar J, Brosius U, Gärtner J |title=The peroxisomal membrane targeting elements of human peroxin 2 (PEX2). |journal=Eur. J. Cell Biol. |volume=82 |issue= 4 |pages= 155–62 |year= 2003 |pmid= 12751901 |doi=
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Steinberg S, Chen L, Wei L, "et al." |title=The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. |journal=Mol. Genet. Metab. |volume=83 |issue= 3 |pages= 252–63 |year= 2005 |pmid= 15542397 |doi= 10.1016/j.ymgme.2004.08.008
*cite journal | author=Stelzl U, Worm U, Lalowski M, "et al." |title=A human protein-protein interaction network: a resource for annotating the proteome. |journal=Cell |volume=122 |issue= 6 |pages= 957–68 |year= 2005 |pmid= 16169070 |doi= 10.1016/j.cell.2005.08.029
*cite journal | author=Rual JF, Venkatesan K, Hao T, "et al." |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209
*cite journal | author=Kimura K, Wakamatsu A, Suzuki Y, "et al." |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406

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