PXMP3
| Peroxisomal membrane protein 3, 35kDa (Zellweger syndrome) | |||||||||||
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| Identifiers | |||||||||||
| Symbols | PXMP3 ; PAF-1; PAF1; PEX2; PMP3; PMP35; RNF72 | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 269 | ||||||||||
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| RNA expression pattern | |||||||||||
| File:PBB GE PXMP3 210296 s at tn.png | |||||||||||
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| Orthologs | |||||||||||
| Template:GNF Ortholog box | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | n/a | n/a | |||||||||
| Ensembl | n/a | n/a | |||||||||
| UniProt | n/a | n/a | |||||||||
| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
| PubMed search | n/a | n/a | |||||||||
Peroxisomal membrane protein 3, 35kDa (Zellweger syndrome), also known as PXMP3, is a human gene.[1]
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.[1]
References
Further reading
- Distel B, Erdmann R, Gould SJ; et al. (1996). "A unified nomenclature for peroxisome biogenesis factors". J. Cell Biol. 135 (1): 1–3. PMID 8858157.
- Patarca R, Fletcher MA (1992). "Ring finger in the peroxisome assembly factor-1". FEBS Lett. 312 (1): 1–2. PMID 1426230.
- Shimozawa N, Tsukamoto T, Suzuki Y; et al. (1992). "A human gene responsible for Zellweger syndrome that affects peroxisome assembly". Science. 255 (5048): 1132–4. PMID 1546315.
- 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. PMID 1750930.
- 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. PMID 2454948.
- 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. PMID 7600573.
- 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.
- 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. PMID 9452066.
- 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. PMID 9765053.
- 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. PMID 10528859.
- 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.
- 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.
- 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. doi:10.1073/pnas.242603899. PMID 12477932.
- 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. PMID 12751901.
- 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. PMID 15489334.
- 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.
- 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. PMID 16169070.
- 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. PMID 16189514.
- 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. PMID 16344560.
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