PEX6: Difference between revisions

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Latest revision as of 07:58, 10 January 2019

Peroxisome assembly factor 2 is a protein that in humans is encoded by the PEX6 gene.^[1]^[2] PEX6 is an AAA ATPase that localizes to the peroxisome. PEX6 forms a hexamer with PEX1^[3]^[4] and is recruited to the membrane by PEX26.^[5]

Function

From yeast to plants to humans, there is only one verified function of PEX6; PEX6 (and PEX1) removes PEX5 from the peroxisomal membrane so that PEX5 may do additional rounds of peroxisomal import. Human PEX6 can genetically complement plant pex6 mutants, which highlights functional conservation.^[6] Work with pex6 mutants in Arabidopsis thaliana has shown that PEX6 may have a role in consuming oil body (plant-specific lipid droplets).^[7] Work with yeast pex6 mutants has shown that PEX6 is a key player in the autophagy of peroxisomes called pexophagy.^[8]

Related diseases

Mutations in the genes encoding PEX6, along with PEX1, are the leading causes of peroxisomal biogenesis disorders^[9], such as Zellweger Syndrome spectrum, infantile Refsum disease, and neonatal adrenoleukodystrophy. These genetic diseases are autosomal recessive and occur in 1 of every 50,000 births.^[10]

References

↑ Yahraus T, Braverman N, Dodt G, Kalish JE, Morrell JC, Moser HW, Valle D, Gould SJ (June 1996). "The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor". The EMBO Journal. 15 (12): 2914–23. PMC 450231. PMID 8670792.
↑ "Entrez Gene: PEX6 peroxisomal biogenesis factor 6".
↑ Tamura S, Shimozawa N, Suzuki Y, Tsukamoto T, Osumi T, Fujiki Y (April 1998). "A cytoplasmic AAA family peroxin, Pex1p, interacts with Pex6p". Biochemical and Biophysical Research Communications. 245 (3): 883–6. doi:10.1006/bbrc.1998.8522. PMID 9588209.
↑ Gardner BM, Chowdhury S, Lander GC, Martin A (March 2015). "The Pex1/Pex6 complex is a heterohexameric AAA+ motor with alternating and highly coordinated subunits". Journal of Molecular Biology. 427 (6 Pt B): 1375–88. doi:10.1016/j.jmb.2015.01.019. PMC 4355278. PMID 25659908.
↑ Matsumoto N, Tamura S, Fujiki Y (May 2003). "The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes". Nature Cell Biology. 5 (5): 454–60. doi:10.1038/ncb982. PMID 12717447.
↑ Zolman BK, Bartel B (February 2004). "An Arabidopsis indole-3-butyric acid-response mutant defective in PEROXIN6, an apparent ATPase implicated in peroxisomal function". Proceedings of the National Academy of Sciences of the United States of America. 101 (6): 1786–91. doi:10.1073/pnas.0304368101. PMC 341854. PMID 14745029.
↑ Gonzalez KL, Fleming WA, Kao YT, Wright ZJ, Venkova SV, Ventura MJ, Bartel B (October 2017). "Disparate peroxisome-related defects in Arabidopsis pex6 and pex26 mutants link peroxisomal retrotranslocation and oil body utilization". The Plant Journal. 92 (1): 110–128. doi:10.1111/tpj.13641. PMC 5605450. PMID 28742939.
↑ Nuttall JM, Motley AM, Hettema EH (May 2014). "Deficiency of the exportomer components Pex1, Pex6, and Pex15 causes enhanced pexophagy in Saccharomyces cerevisiae". Autophagy. 10 (5): 835–45. doi:10.4161/auto.28259. PMC 5119063. PMID 24657987.
↑ Waterham HR, Ebberink MS (September 2012). "Genetics and molecular basis of human peroxisome biogenesis disorders". Biochimica et Biophysica Acta. 1822 (9): 1430–41. doi:10.1016/j.bbadis.2012.04.006. PMID 22871920.
↑ Braverman NE, Raymond GV, Rizzo WB, Moser AB, Wilkinson ME, Stone EM, Steinberg SJ, Wangler MF, Rush ET, Hacia JG, Bose M (March 2016). "Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines". Molecular Genetics and Metabolism. 117 (3): 313–21. doi:10.1016/j.ymgme.2015.12.009. PMC 5214431. PMID 26750748.

Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Fukuda S, Shimozawa N, Suzuki Y, Zhang Z, Tomatsu S, Tsukamoto T, Hashiguchi N, Osumi T, Masuno M, Imaizumi K, Kuroki Y, Fujiki Y, Orii T, Kondo N (December 1996). "Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans". American Journal of Human Genetics. 59 (6): 1210–20. PMC 1914864. PMID 8940266.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Tamura S, Shimozawa N, Suzuki Y, Tsukamoto T, Osumi T, Fujiki Y (April 1998). "A cytoplasmic AAA family peroxin, Pex1p, interacts with Pex6p". Biochemical and Biophysical Research Communications. 245 (3): 883–6. doi:10.1006/bbrc.1998.8522. PMID 9588209.
Geisbrecht BV, Collins CS, Reuber BE, Gould SJ (July 1998). "Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease". Proceedings of the National Academy of Sciences of the United States of America. 95 (15): 8630–5. doi:10.1073/pnas.95.15.8630. PMC 21127. PMID 9671729.
Zhang Z, Suzuki Y, Shimozawa N, Fukuda S, Imamura A, Tsukamoto T, Osumi T, Fujiki Y, Orii T, Wanders RJ, Barth PG, Moser HW, Paton BC, Besley GT, Kondo N (1999). "Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders". Human Mutation. 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, Moser HW, Braverman N, Suzuki Y, Shimozawa N, Kondo N, Fujiki Y (2001). "The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6". Journal of Human Genetics. 46 (5): 273–7. doi:10.1007/s100380170078. PMID 11355018.
Tamura S, Matsumoto N, Imamura A, Shimozawa N, Suzuki Y, Kondo N, Fujiki Y (July 2001). "Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction". The Biochemical Journal. 357 (Pt 2): 417–26. doi:10.1042/0264-6021:3570417. PMC 1221968. PMID 11439091.
Raas-Rothschild A, Wanders RJ, Mooijer PA, Gootjes J, Waterham HR, Gutman A, Suzuki Y, Shimozawa N, Kondo N, Eshel G, Espeel M, Roels F, Korman SH (April 2002). "A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents". American Journal of Human Genetics. 70 (4): 1062–8. doi:10.1086/339766. PMC 379104. PMID 11873320.
Matsumoto N, Tamura S, Fujiki Y (May 2003). "The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes". Nature Cell Biology. 5 (5): 454–60. doi:10.1038/ncb982. PMID 12717447.
Warner DR, Roberts EA, Greene RM, Pisano MM (December 2003). "Identification of novel Smad binding proteins". Biochemical and Biophysical Research Communications. 312 (4): 1185–90. doi:10.1016/j.bbrc.2003.11.049. PMID 14651998.
Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A, Meil A, Wojcik J, Legrain P, Gauthier JM (July 2004). "Functional proteomics mapping of a human signaling pathway". Genome Research. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMC 442148. PMID 15231748.
Furuki S, Tamura S, Matsumoto N, Miyata N, Moser A, Moser HW, Fujiki Y (January 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". The Journal of Biological Chemistry. 281 (3): 1317–23. doi:10.1074/jbc.M510044200. PMID 16257970.
Tamura S, Yasutake S, Matsumoto N, Fujiki Y (September 2006). "Dynamic and functional assembly of the AAA peroxins, Pex1p and Pex6p, and their membrane receptor Pex26p". The Journal of Biological Chemistry. 281 (38): 27693–704. doi:10.1074/jbc.M605159200. PMID 16854980.

External links

[pmid8670792-1] Yahraus T, Braverman N, Dodt G, Kalish JE, Morrell JC, Moser HW, Valle D, Gould SJ (June 1996). "The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor". The EMBO Journal. 15 (12): 2914–23. PMC 450231. PMID 8670792.

[entrez-2] "Entrez Gene: PEX6 peroxisomal biogenesis factor 6".

[pmid9588209-3] Tamura S, Shimozawa N, Suzuki Y, Tsukamoto T, Osumi T, Fujiki Y (April 1998). "A cytoplasmic AAA family peroxin, Pex1p, interacts with Pex6p". Biochemical and Biophysical Research Communications. 245 (3): 883–6. doi:10.1006/bbrc.1998.8522. PMID 9588209.

[4] Gardner BM, Chowdhury S, Lander GC, Martin A (March 2015). "The Pex1/Pex6 complex is a heterohexameric AAA+ motor with alternating and highly coordinated subunits". Journal of Molecular Biology. 427 (6 Pt B): 1375–88. doi:10.1016/j.jmb.2015.01.019. PMC 4355278. PMID 25659908.

[pmid12717447-5] Matsumoto N, Tamura S, Fujiki Y (May 2003). "The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes". Nature Cell Biology. 5 (5): 454–60. doi:10.1038/ncb982. PMID 12717447.

[6] Zolman BK, Bartel B (February 2004). "An Arabidopsis indole-3-butyric acid-response mutant defective in PEROXIN6, an apparent ATPase implicated in peroxisomal function". Proceedings of the National Academy of Sciences of the United States of America. 101 (6): 1786–91. doi:10.1073/pnas.0304368101. PMC 341854. PMID 14745029.

[7] Gonzalez KL, Fleming WA, Kao YT, Wright ZJ, Venkova SV, Ventura MJ, Bartel B (October 2017). "Disparate peroxisome-related defects in Arabidopsis pex6 and pex26 mutants link peroxisomal retrotranslocation and oil body utilization". The Plant Journal. 92 (1): 110–128. doi:10.1111/tpj.13641. PMC 5605450. PMID 28742939.

[8] Nuttall JM, Motley AM, Hettema EH (May 2014). "Deficiency of the exportomer components Pex1, Pex6, and Pex15 causes enhanced pexophagy in Saccharomyces cerevisiae". Autophagy. 10 (5): 835–45. doi:10.4161/auto.28259. PMC 5119063. PMID 24657987.

[9] Waterham HR, Ebberink MS (September 2012). "Genetics and molecular basis of human peroxisome biogenesis disorders". Biochimica et Biophysica Acta. 1822 (9): 1430–41. doi:10.1016/j.bbadis.2012.04.006. PMID 22871920.

[10] Braverman NE, Raymond GV, Rizzo WB, Moser AB, Wilkinson ME, Stone EM, Steinberg SJ, Wangler MF, Rush ET, Hacia JG, Bose M (March 2016). "Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines". Molecular Genetics and Metabolism. 117 (3): 313–21. doi:10.1016/j.ymgme.2015.12.009. PMC 5214431. PMID 26750748.

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-<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
+{{Infobox_gene}}
-{{PBB_Controls
+'''Peroxisome assembly factor 2''' is a [[protein]] that in humans is encoded by the ''PEX6'' [[gene]].<ref name="pmid8670792">{{cite journal | vauthors = Yahraus T, Braverman N, Dodt G, Kalish JE, Morrell JC, Moser HW, Valle D, Gould SJ | title = The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor | journal = The EMBO Journal | volume = 15 | issue = 12 | pages = 2914–23 | date = June 1996 | pmid = 8670792 | pmc = 450231 | doi =  }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: PEX6 peroxisomal biogenesis factor 6| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5190| accessdate = }}</ref> PEX6 is an AAA [[ATPase]] that localizes to the [[peroxisome]]. PEX6 forms a hexamer with [[PEX1]]<ref name="pmid9588209">{{cite journal | vauthors = Tamura S, Shimozawa N, Suzuki Y, Tsukamoto T, Osumi T, Fujiki Y | title = A cytoplasmic AAA family peroxin, Pex1p, interacts with Pex6p | journal = Biochemical and Biophysical Research Communications | volume = 245 | issue = 3 | pages = 883–6 | date = April 1998 | pmid = 9588209 | doi = 10.1006/bbrc.1998.8522 }}</ref><ref>{{cite journal | vauthors = Gardner BM, Chowdhury S, Lander GC, Martin A | title = The Pex1/Pex6 complex is a heterohexameric AAA+ motor with alternating and highly coordinated subunits | journal = Journal of Molecular Biology | volume = 427 | issue = 6 Pt B | pages = 1375–88 | date = March 2015 | pmid = 25659908 | doi = 10.1016/j.jmb.2015.01.019 | url = http://linkinghub.elsevier.com/retrieve/pii/S0022283615000753 | pmc=4355278}}</ref> and is recruited to the membrane by [[PEX26]].<ref name="pmid12717447">{{cite journal | vauthors = Matsumoto N, Tamura S, Fujiki Y | title = The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes | journal = Nature Cell Biology | volume = 5 | issue = 5 | pages = 454–60 | date = May 2003 | pmid = 12717447 | doi = 10.1038/ncb982 }}</ref>
-| update_page = yes
-| require_manual_inspection = no
-| update_protein_box = yes
-| update_summary = yes
-| update_citations = yes
-}}
-<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
+== Function ==
-{{GNF_Protein_box
+From yeast to plants to humans, there is only one verified function of PEX6; PEX6 (and PEX1) removes [[PEX5]] from the peroxisomal membrane so that PEX5 may do additional rounds of peroxisomal import. Human PEX6 can genetically complement plant ''pex6'' mutants, which highlights functional conservation.<ref>{{cite journal | vauthors = Zolman BK, Bartel B | title = An Arabidopsis indole-3-butyric acid-response mutant defective in PEROXIN6, an apparent ATPase implicated in peroxisomal function | language = en | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 101 | issue = 6 | pages = 1786–91 | date = February 2004 | pmid = 14745029 | doi = 10.1073/pnas.0304368101 | url = http://www.pnas.org/content/101/6/1786 | pmc=341854}}</ref> Work with ''pex6'' mutants in ''[[Arabidopsis thaliana]]'' has shown that PEX6 may have a role in consuming [[oil body]] (plant-specific [[Lipid droplet|lipid droplets]]).<ref>{{cite journal | vauthors = Gonzalez KL, Fleming WA, Kao YT, Wright ZJ, Venkova SV, Ventura MJ, Bartel B | title = Disparate peroxisome-related defects in Arabidopsis pex6 and pex26 mutants link peroxisomal retrotranslocation and oil body utilization | language = en | journal = The Plant Journal | volume = 92 | issue = 1 | pages = 110–128 | date = October 2017 | pmid = 28742939 | doi = 10.1111/tpj.13641 | pmc=5605450}}</ref> Work with yeast ''pex6'' mutants has shown that PEX6 is a key player in the [[autophagy]] of peroxisomes called pexophagy.<ref>{{cite journal | vauthors = Nuttall JM, Motley AM, Hettema EH | title = Deficiency of the exportomer components Pex1, Pex6, and Pex15 causes enhanced pexophagy in Saccharomyces cerevisiae | journal = Autophagy | volume = 10 | issue = 5 | pages = 835–45 | date = May 2014 | pmid = 24657987 | doi = 10.4161/auto.28259 | pmc=5119063}}</ref>
- | image =
- | image_source =
- | PDB =
- | Name = Peroxisomal biogenesis factor 6
- | HGNCid = 8859
- | Symbol = PEX6
- | AltSymbols =; PAF-2; PAF2; PXAAA1
- | OMIM = 601498
- | ECnumber =
- | Homologene = 47914
- | MGIid = 2385054
- | GeneAtlas_image1 = PBB_GE_PEX6_320_at_tn.png
- | GeneAtlas_image2 = PBB_GE_PEX6_204545_at_tn.png
- | Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0017111 |text = nucleoside-triphosphatase activity}} {{GNF_GO|id=GO:0042623 |text = ATPase activity, coupled}}
- | Component = {{GNF_GO|id=GO:0005737 |text = cytoplasm}} {{GNF_GO|id=GO:0005777 |text = peroxisome}} {{GNF_GO|id=GO:0016020 |text = membrane}}
- | Process = {{GNF_GO|id=GO:0007031 |text = peroxisome organization and biogenesis}}
- | Orthologs = {{GNF_Ortholog_box
-    | Hs_EntrezGene = 5190
-    | Hs_Ensembl = ENSG00000124587
-    | Hs_RefseqProtein = NP_000278
-    | Hs_RefseqmRNA = NM_000287
-    | Hs_GenLoc_db =
-    | Hs_GenLoc_chr = 6
-    | Hs_GenLoc_start = 43039586
-    | Hs_GenLoc_end = 43054936
-    | Hs_Uniprot = Q13608
-    | Mm_EntrezGene = 224824
-    | Mm_Ensembl = ENSMUSG00000002763
-    | Mm_RefseqmRNA = NM_145488
-    | Mm_RefseqProtein = NP_663463
-    | Mm_GenLoc_db =
-    | Mm_GenLoc_chr = 17
-    | Mm_GenLoc_start = 46174654
-    | Mm_GenLoc_end = 46188732
-    | Mm_Uniprot = Q5DTJ5
-  }}
-}}
-'''Peroxisomal biogenesis factor 6''', also known as '''PEX6''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: PEX6 peroxisomal biogenesis factor 6| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5190| accessdate = }}</ref>
-<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
+== Related diseases ==
-{{PBB_Summary
+Mutations in the genes encoding PEX6, along with PEX1, are the leading causes of peroxisomal biogenesis disorders<ref>{{cite journal | vauthors = Waterham HR, Ebberink MS | title = Genetics and molecular basis of human peroxisome biogenesis disorders | journal = Biochimica et Biophysica Acta | volume = 1822 | issue = 9 | pages = 1430–41 | date = September 2012 | pmid = 22871920 | doi = 10.1016/j.bbadis.2012.04.006 }}</ref>, such as [[Zellweger syndrome|Zellweger Syndrome]] spectrum, [[infantile Refsum disease]], and [[neonatal adrenoleukodystrophy]]. These genetic diseases are [[Autosomal Recessive|autosomal recessive]] and occur in 1 of every 50,000 births.<ref>{{cite journal | vauthors = Braverman NE, Raymond GV, Rizzo WB, Moser AB, Wilkinson ME, Stone EM, Steinberg SJ, Wangler MF, Rush ET, Hacia JG, Bose M | title = Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines | journal = Molecular Genetics and Metabolism | volume = 117 | issue = 3 | pages = 313–21 | date = March 2016 | pmid = 26750748 | doi = 10.1016/j.ymgme.2015.12.009 | url = http://linkinghub.elsevier.com/retrieve/pii/S1096719215300937 | pmc=5214431}}</ref>
-| section_title =
-| summary_text =
-}}
-==References==
+== References ==
-{{reflist|2}}
+{{Reflist}}
-==Further reading==
-{{refbegin | 2}}
-{{PBB_Further_reading
-| citations =
-*{{cite journal  | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171-4 |year= 1994 |pmid= 8125298 |doi=  }}
-*{{cite journal  | author=Yahraus T, Braverman N, Dodt G, ''et al.'' |title=The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor. |journal=EMBO J. |volume=15 |issue= 12 |pages= 2914-23 |year= 1996 |pmid= 8670792 |doi=  }}
-*{{cite journal  | author=Fukuda S, Shimozawa N, Suzuki Y, ''et al.'' |title=Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans. |journal=Am. J. Hum. Genet. |volume=59 |issue= 6 |pages= 1210-20 |year= 1997 |pmid= 8940266 |doi=  }}
-*{{cite journal  | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, ''et al.'' |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149-56 |year= 1997 |pmid= 9373149 |doi=  }}
-*{{cite journal  | author=Tamura S, Shimozawa N, Suzuki Y, ''et al.'' |title=A cytoplasmic AAA family peroxin, Pex1p, interacts with Pex6p. |journal=Biochem. Biophys. Res. Commun. |volume=245 |issue= 3 |pages= 883-6 |year= 1998 |pmid= 9588209 |doi= 10.1006/bbrc.1998.8522 }}
-*{{cite journal  | author=Geisbrecht BV, Collins CS, Reuber BE, Gould SJ |title=Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=95 |issue= 15 |pages= 8630-5 |year= 1998 |pmid= 9671729 |doi=  }}
-*{{cite journal  | author=Zhang Z, Suzuki Y, Shimozawa N, ''et al.'' |title=Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders. |journal=Hum. Mutat. |volume=13 |issue= 6 |pages= 487-96 |year= 1999 |pmid= 10408779 |doi= 10.1002/(SICI)1098-1004(1999)13:6<487::AID-HUMU9>3.0.CO;2-T }}
-*{{cite journal  | author=Matsumoto N, Tamura S, Moser A, ''et al.'' |title=The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6. |journal=J. Hum. Genet. |volume=46 |issue= 5 |pages= 273-7 |year= 2001 |pmid= 11355018 |doi=  }}
-*{{cite journal  | author=Tamura S, Matsumoto N, Imamura A, ''et al.'' |title=Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction. |journal=Biochem. J. |volume=357 |issue= Pt 2 |pages= 417-26 |year= 2001 |pmid= 11439091 |doi=  }}
-*{{cite journal  | author=Raas-Rothschild A, Wanders RJ, Mooijer PA, ''et al.'' |title=A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents. |journal=Am. J. Hum. Genet. |volume=70 |issue= 4 |pages= 1062-8 |year= 2002 |pmid= 11873320 |doi=  }}
-*{{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=Matsumoto N, Tamura S, Fujiki Y |title=The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes. |journal=Nat. Cell Biol. |volume=5 |issue= 5 |pages= 454-60 |year= 2003 |pmid= 12717447 |doi= 10.1038/ncb982 }}
-*{{cite journal  | author=Warner DR, Roberts EA, Greene RM, Pisano MM |title=Identification of novel Smad binding proteins. |journal=Biochem. Biophys. Res. Commun. |volume=312 |issue= 4 |pages= 1185-90 |year= 2004 |pmid= 14651998 |doi=  }}
-*{{cite journal  | author=Colland F, Jacq X, Trouplin V, ''et al.'' |title=Functional proteomics mapping of a human signaling pathway. |journal=Genome Res. |volume=14 |issue= 7 |pages= 1324-32 |year= 2004 |pmid= 15231748 |doi= 10.1101/gr.2334104 }}
-*{{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=Furuki S, Tamura S, Matsumoto N, ''et al.'' |title=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. |journal=J. Biol. Chem. |volume=281 |issue= 3 |pages= 1317-23 |year= 2006 |pmid= 16257970 |doi= 10.1074/jbc.M510044200 }}
-*{{cite journal  | author=Tamura S, Yasutake S, Matsumoto N, Fujiki Y |title=Dynamic and functional assembly of the AAA peroxins, Pex1p and Pex6p, and their membrane receptor Pex26p. |journal=J. Biol. Chem. |volume=281 |issue= 38 |pages= 27693-704 |year= 2006 |pmid= 16854980 |doi= 10.1074/jbc.M605159200 }}
-}}
-{{refend}}
-{{protein-stub}}
+== Further reading ==
-{{WikiDoc Sources}}
+{{Refbegin | 2}}
+* {{cite journal | vauthors = Maruyama K, Sugano S | title = Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides | journal = Gene | volume = 138 | issue = 1–2 | pages = 171–4 | date = January 1994 | pmid = 8125298 | doi = 10.1016/0378-1119(94)90802-8 }}
+* {{cite journal | vauthors = Fukuda S, Shimozawa N, Suzuki Y, Zhang Z, Tomatsu S, Tsukamoto T, Hashiguchi N, Osumi T, Masuno M, Imaizumi K, Kuroki Y, Fujiki Y, Orii T, Kondo N | title = Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans | journal = American Journal of Human Genetics | volume = 59 | issue = 6 | pages = 1210–20 | date = December 1996 | pmid = 8940266 | pmc = 1914864 | doi =  }}
+* {{cite journal | vauthors = Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S | title = Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library | journal = Gene | volume = 200 | issue = 1–2 | pages = 149–56 | date = October 1997 | pmid = 9373149 | doi = 10.1016/S0378-1119(97)00411-3 }}
+* {{cite journal | vauthors = Tamura S, Shimozawa N, Suzuki Y, Tsukamoto T, Osumi T, Fujiki Y | title = A cytoplasmic AAA family peroxin, Pex1p, interacts with Pex6p | journal = Biochemical and Biophysical Research Communications | volume = 245 | issue = 3 | pages = 883–6 | date = April 1998 | pmid = 9588209 | doi = 10.1006/bbrc.1998.8522 }}
+* {{cite journal | vauthors = Geisbrecht BV, Collins CS, Reuber BE, Gould SJ | title = Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 95 | issue = 15 | pages = 8630–5 | date = July 1998 | pmid = 9671729 | pmc = 21127 | doi = 10.1073/pnas.95.15.8630 }}
+* {{cite journal | vauthors = Zhang Z, Suzuki Y, Shimozawa N, Fukuda S, Imamura A, Tsukamoto T, Osumi T, Fujiki Y, Orii T, Wanders RJ, Barth PG, Moser HW, Paton BC, Besley GT, Kondo N | title = Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders | journal = Human Mutation | volume = 13 | issue = 6 | pages = 487–96 | year = 1999 | pmid = 10408779 | doi = 10.1002/(SICI)1098-1004(1999)13:6<487::AID-HUMU9>3.0.CO;2-T }}
+* {{cite journal | vauthors = Matsumoto N, Tamura S, Moser A, Moser HW, Braverman N, Suzuki Y, Shimozawa N, Kondo N, Fujiki Y | title = The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6 | journal = Journal of Human Genetics | volume = 46 | issue = 5 | pages = 273–7 | year = 2001 | pmid = 11355018 | doi = 10.1007/s100380170078 }}
+* {{cite journal | vauthors = Tamura S, Matsumoto N, Imamura A, Shimozawa N, Suzuki Y, Kondo N, Fujiki Y | title = Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction | journal = The Biochemical Journal | volume = 357 | issue = Pt 2 | pages = 417–26 | date = July 2001 | pmid = 11439091 | pmc = 1221968 | doi = 10.1042/0264-6021:3570417 }}
+* {{cite journal | vauthors = Raas-Rothschild A, Wanders RJ, Mooijer PA, Gootjes J, Waterham HR, Gutman A, Suzuki Y, Shimozawa N, Kondo N, Eshel G, Espeel M, Roels F, Korman SH | title = A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents | journal = American Journal of Human Genetics | volume = 70 | issue = 4 | pages = 1062–8 | date = April 2002 | pmid = 11873320 | pmc = 379104 | doi = 10.1086/339766 }}
+* {{cite journal | vauthors = Matsumoto N, Tamura S, Fujiki Y | title = The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes | journal = Nature Cell Biology | volume = 5 | issue = 5 | pages = 454–60 | date = May 2003 | pmid = 12717447 | doi = 10.1038/ncb982 }}
+* {{cite journal | vauthors = Warner DR, Roberts EA, Greene RM, Pisano MM | title = Identification of novel Smad binding proteins | journal = Biochemical and Biophysical Research Communications | volume = 312 | issue = 4 | pages = 1185–90 | date = December 2003 | pmid = 14651998 | doi = 10.1016/j.bbrc.2003.11.049 }}
+* {{cite journal | vauthors = Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A, Meil A, Wojcik J, Legrain P, Gauthier JM | title = Functional proteomics mapping of a human signaling pathway | journal = Genome Research | volume = 14 | issue = 7 | pages = 1324–32 | date = July 2004 | pmid = 15231748 | pmc = 442148 | doi = 10.1101/gr.2334104 }}
+* {{cite journal | vauthors = Furuki S, Tamura S, Matsumoto N, Miyata N, Moser A, Moser HW, Fujiki Y | title = 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 | journal = The Journal of Biological Chemistry | volume = 281 | issue = 3 | pages = 1317–23 | date = January 2006 | pmid = 16257970 | doi = 10.1074/jbc.M510044200 }}
+* {{cite journal | vauthors = Tamura S, Yasutake S, Matsumoto N, Fujiki Y | title = Dynamic and functional assembly of the AAA peroxins, Pex1p and Pex6p, and their membrane receptor Pex26p | journal = The Journal of Biological Chemistry | volume = 281 | issue = 38 | pages = 27693–704 | date = September 2006 | pmid = 16854980 | doi = 10.1074/jbc.M605159200 }}
+{{Refend}}
+== External links ==
+* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pbd  GeneReviews/NCBI/NIH/UW entry on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum]
+* [https://www.ncbi.nlm.nih.gov/omim/170993,202370,214100,266510,600279,600414,601498,601758,601789,601791,602136,602859,603164,603360,608666,170993,202370,214100,266510,600279,600414,601498,601758,601789,601791,602136,602859,603164,603360,608666 OMIM entries on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum]

PEX6: Difference between revisions

Latest revision as of 07:58, 10 January 2019

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