PEX1

PEX1 has been shown to interact with PEX6{{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 = 883–886 | 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 = 8630–8635 | date = July 1998 | pmid = 9671729 | pmc = 21127 | doi = 10.1073/pnas.95.15.8630 | bibcode = 1998PNAS...95.8630G | doi-access = free }} and PEX26.{{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 = 454–460 | date = May 2003 | pmid = 12717447 | doi = 10.1038/ncb982 | s2cid = 2426040 }}

Mutations in the genes encoding PEX1, along with PEX6, are the leading causes of peroxisomal biogenesis disorders,{{cite journal | vauthors = Waterham HR, Ebberink MS | title = Genetics and molecular basis of human peroxisome biogenesis disorders | journal = Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease | volume = 1822 | issue = 9 | pages = 1430–1441 | date = September 2012 | pmid = 22871920 | doi = 10.1016/j.bbadis.2012.04.006 | doi-access = free }} 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.{{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 | display-authors = 6 | 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 = 313–321 | date = March 2016 | pmid = 26750748 | pmc = 5214431 | doi = 10.1016/j.ymgme.2015.12.009 }} Because of the autosomal recessive inheritance of Zellweger Syndrome, PEX1 is usually found in carrier screening gene panels. A very common PEX1 variant, Gly843Asp, is a mild allele well-reported in the literature.{{cite journal | vauthors = Braverman NE, D'Agostino MD, Maclean GE | title = Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives | journal = Developmental Disabilities Research Reviews | volume = 17 | issue = 3 | pages = 187–196 | date = June 2013 | pmid = 23798008 | doi = 10.1002/ddrr.1113 }}

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• {{cite journal | vauthors = Wanders RJ | title = Metabolic and molecular basis of peroxisomal disorders: a review | journal = American Journal of Medical Genetics. Part A | volume = 126A | issue = 4 | pages = 355–375 | date = May 2004 | pmid = 15098234 | doi = 10.1002/ajmg.a.20661 | s2cid = 24025032 }}
• {{cite journal | vauthors = Crane DI, Maxwell MA, Paton BC | title = PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders | journal = Human Mutation | volume = 26 | issue = 3 | pages = 167–175 | date = September 2005 | pmid = 16086329 | doi = 10.1002/humu.20211 | s2cid = 20330106 | doi-access = free }}
• {{cite journal | vauthors = Naritomi K, Izumikawa Y, Ohshiro S, Yoshida K, Shimozawa N, Suzuki Y, Orii T, Hirayama K | display-authors = 6 | title = Gene assignment of Zellweger syndrome to 7q11.23: report of the second case associated with a pericentric inversion of chromosome 7 | journal = Human Genetics | volume = 84 | issue = 1 | pages = 79–80 | date = December 1989 | pmid = 2606480 | doi = 10.1007/BF00210677 | s2cid = 44388911 }}
• {{cite journal | vauthors = Reuber BE, Germain-Lee E, Collins CS, Morrell JC, Ameritunga R, Moser HW, Valle D, Gould SJ | display-authors = 6 | title = Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders | journal = Nature Genetics | volume = 17 | issue = 4 | pages = 445–448 | date = December 1997 | pmid = 9398847 | doi = 10.1038/ng1297-445 | s2cid = 34034756 }}
• {{cite journal | vauthors = Portsteffen H, Beyer A, Becker E, Epplen C, Pawlak A, Kunau WH, Dodt G | title = Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders | journal = Nature Genetics | volume = 17 | issue = 4 | pages = 449–452 | date = December 1997 | pmid = 9398848 | doi = 10.1038/ng1297-449 | s2cid = 2487398 }}
• {{cite journal | vauthors = Faber KN, Heyman JA, Subramani S | title = Two AAA family peroxins, PpPex1p and PpPex6p, interact with each other in an ATP-dependent manner and are associated with different subcellular membranous structures distinct from peroxisomes | journal = Molecular and Cellular Biology | volume = 18 | issue = 2 | pages = 936–943 | date = February 1998 | pmid = 9447990 | pmc = 108805 | doi = 10.1128/mcb.18.2.936 }}
• {{cite journal | vauthors = Tamura S, Okumoto K, Toyama R, Shimozawa N, Tsukamoto T, Suzuki Y, Osumi T, Kondo N, Fujiki Y | display-authors = 6 | title = Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 95 | issue = 8 | pages = 4350–4355 | date = April 1998 | pmid = 9539740 | pmc = 22492 | doi = 10.1073/pnas.95.8.4350 | doi-access = free | bibcode = 1998PNAS...95.4350T }}
• {{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 = 883–886 | 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 = 8630–8635 | date = July 1998 | pmid = 9671729 | pmc = 21127 | doi = 10.1073/pnas.95.15.8630 | doi-access = free | bibcode = 1998PNAS...95.8630G }}
• {{cite journal | vauthors = Collins CS, Gould SJ | title = Identification of a common PEX1 mutation in Zellweger syndrome | journal = Human Mutation | volume = 14 | issue = 1 | pages = 45–53 | year = 1999 | pmid = 10447258 | doi = 10.1002/(SICI)1098-1004(1999)14:1<45::AID-HUMU6>3.0.CO;2-J | s2cid = 22153024 | doi-access = free }}
• {{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 = 417–426 | date = July 2001 | pmid = 11439091 | pmc = 1221968 | doi = 10.1042/0264-6021:3570417 }}
• {{cite journal | vauthors = Preuss N, Brosius U, Biermanns M, Muntau AC, Conzelmann E, Gartner J | title = PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease | journal = Pediatric Research | volume = 51 | issue = 6 | pages = 706–714 | date = June 2002 | pmid = 12032265 | doi = 10.1203/00006450-200206000-00008 | doi-access = free }}
• {{cite journal | vauthors = Maxwell MA, Allen T, Solly PB, Svingen T, Paton BC, Crane DI | title = Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients | journal = Human Mutation | volume = 20 | issue = 5 | pages = 342–351 | date = November 2002 | pmid = 12402331 | doi = 10.1002/humu.10128 | s2cid = 26081019 | doi-access = free }}
• {{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 = 454–460 | date = May 2003 | pmid = 12717447 | doi = 10.1038/ncb982 | s2cid = 2426040 }}
• {{Cite book |vauthors=Dodt G, Walter C |chapter=Study of Mutant Proteins with Folding Defects in Cultured Patient Cells |title=Protein Misfolding and Disease |series=Methods Mol. Biol. |volume=232 |pages= 165–73 |year= 2004 |pmid= 12840548 |doi= 10.1385/1-59259-394-1:165 | isbn=1-59259-394-1 }}

{{Refend}}

• [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]

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