PEX6

From Wikipedia, the free encyclopedia

Peroxisomal biogenesis factor 6

Identifiers

PEX6; PAF-2; PAF2; PXAAA1

External IDs

OMIM: 601498 MGI: 2385054 HomoloGene: 47914

Gene ontology
Molecular Function:	• nucleotide binding • protein binding • ATP binding • nucleoside-triphosphatase activity • ATPase activity, coupled
Cellular Component:	• cytoplasm • peroxisome • membrane
Biological Process:	• peroxisome organization and biogenesis

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000287 (mRNA)
NP_000278 (protein)

NM_145488 (mRNA)
NP_663463 (protein)

Location

Chr 6: 43.04 - 43.05 Mb

Chr 17: 46.17 - 46.19 Mb

Pubmed search

[1]

[2]

Peroxisomal biogenesis factor 6, also known as PEX6, is a human gene.^[1]

[edit] References

^ Entrez Gene: PEX6 peroxisomal biogenesis factor 6.

[edit] 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.