PEX6

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Peroxisomal biogenesis factor 6
Identifiers
Symbols PEX6 ; PAF-2; PAF2; PXAAA1
External IDs Template:OMIM5 Template:MGI HomoloGene47914
RNA expression pattern
File:PBB GE PEX6 320 at tn.png
File:PBB GE PEX6 204545 at tn.png
More reference expression data
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 biogenesis factor 6, also known as PEX6, is a human gene.[1]


References

  1. "Entrez Gene: PEX6 peroxisomal biogenesis factor 6".

Further reading

  • Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. PMID 8125298.
  • Yahraus T, Braverman N, Dodt G; et al. (1996). "The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor". EMBO J. 15 (12): 2914–23. PMID 8670792.
  • Fukuda S, Shimozawa N, Suzuki Y; et al. (1997). "Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans". Am. J. Hum. Genet. 59 (6): 1210–20. PMID 8940266.
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K; et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. PMID 9373149.
  • Tamura S, Shimozawa N, Suzuki Y; et al. (1998). "A cytoplasmic AAA family peroxin, Pex1p, interacts with Pex6p". Biochem. Biophys. Res. Commun. 245 (3): 883–6. doi:10.1006/bbrc.1998.8522. PMID 9588209.
  • Geisbrecht BV, Collins CS, Reuber BE, Gould SJ (1998). "Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease". Proc. Natl. Acad. Sci. U.S.A. 95 (15): 8630–5. PMID 9671729.
  • Zhang Z, Suzuki Y, Shimozawa N; et al. (1999). "Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders". Hum. Mutat. 13 (6): 487–96. doi:10.1002/(SICI)1098-1004(1999)13:6<487::AID-HUMU9>3.0.CO;2-T. PMID 10408779.
  • Matsumoto N, Tamura S, Moser A; et al. (2001). "The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6". J. Hum. Genet. 46 (5): 273–7. PMID 11355018.
  • Tamura S, Matsumoto N, Imamura A; et al. (2001). "Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction". Biochem. J. 357 (Pt 2): 417–26. PMID 11439091.
  • Raas-Rothschild A, Wanders RJ, Mooijer PA; et al. (2002). "A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents". Am. J. Hum. Genet. 70 (4): 1062–8. PMID 11873320.
  • 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.
  • Matsumoto N, Tamura S, Fujiki Y (2003). "The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes". Nat. Cell Biol. 5 (5): 454–60. doi:10.1038/ncb982. PMID 12717447.
  • Warner DR, Roberts EA, Greene RM, Pisano MM (2004). "Identification of novel Smad binding proteins". Biochem. Biophys. Res. Commun. 312 (4): 1185–90. PMID 14651998.
  • Colland F, Jacq X, Trouplin V; et al. (2004). "Functional proteomics mapping of a human signaling pathway". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMID 15231748.
  • 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.
  • Furuki S, Tamura S, Matsumoto N; et al. (2006). "Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex". J. Biol. Chem. 281 (3): 1317–23. doi:10.1074/jbc.M510044200. PMID 16257970.
  • Tamura S, Yasutake S, Matsumoto N, Fujiki Y (2006). "Dynamic and functional assembly of the AAA peroxins, Pex1p and Pex6p, and their membrane receptor Pex26p". J. Biol. Chem. 281 (38): 27693–704. doi:10.1074/jbc.M605159200. PMID 16854980.

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