PEX1
Peroxisome biogenesis factor 1, also known as PEX1, is a protein which in humans is encoded by the PEX1 gene.[5]
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| Aliases | PEX1, PBD1A, PBD1B, ZWS, ZWS1, HMLR1, peroxisomal biogenesis factor 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 602136 MGI: 1918632 HomoloGene: 27006 GeneCards: PEX1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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This gene encodes a member of the AAA protein family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome.[5]
Related diseases
Mutations in the genes encoding PEX1, along with PEX6, 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] 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.[11]
References
- GRCh38: Ensembl release 89: ENSG00000127980 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000005907 - Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Entrez Gene: PEX1 peroxisome biogenesis factor 1".
- 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): 883–886. 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): 8630–8635. Bibcode:1998PNAS...95.8630G. doi:10.1073/pnas.95.15.8630. PMC 21127. PMID 9671729.
- 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): 454–460. doi:10.1038/ncb982. PMID 12717447. S2CID 2426040.
- Waterham HR, Ebberink MS (September 2012). "Genetics and molecular basis of human peroxisome biogenesis disorders". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1822 (9): 1430–1441. doi:10.1016/j.bbadis.2012.04.006. PMID 22871920.
- Braverman NE, Raymond GV, Rizzo WB, Moser AB, Wilkinson ME, Stone EM, et al. (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): 313–321. doi:10.1016/j.ymgme.2015.12.009. PMC 5214431. PMID 26750748.
- Braverman NE, D'Agostino MD, Maclean GE (June 2013). "Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives". Developmental Disabilities Research Reviews. 17 (3): 187–196. doi:10.1002/ddrr.1113. PMID 23798008.
Further reading
- Wanders RJ (May 2004). "Metabolic and molecular basis of peroxisomal disorders: a review". American Journal of Medical Genetics. Part A. 126A (4): 355–375. doi:10.1002/ajmg.a.20661. PMID 15098234. S2CID 24025032.
- Crane DI, Maxwell MA, Paton BC (September 2005). "PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders". Human Mutation. 26 (3): 167–175. doi:10.1002/humu.20211. PMID 16086329. S2CID 20330106.
- Naritomi K, Izumikawa Y, Ohshiro S, Yoshida K, Shimozawa N, Suzuki Y, et al. (December 1989). "Gene assignment of Zellweger syndrome to 7q11.23: report of the second case associated with a pericentric inversion of chromosome 7". Human Genetics. 84 (1): 79–80. doi:10.1007/BF00210677. PMID 2606480. S2CID 44388911.
- Reuber BE, Germain-Lee E, Collins CS, Morrell JC, Ameritunga R, Moser HW, et al. (December 1997). "Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders". Nature Genetics. 17 (4): 445–448. doi:10.1038/ng1297-445. PMID 9398847. S2CID 34034756.
- Portsteffen H, Beyer A, Becker E, Epplen C, Pawlak A, Kunau WH, Dodt G (December 1997). "Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders". Nature Genetics. 17 (4): 449–452. doi:10.1038/ng1297-449. PMID 9398848. S2CID 2487398.
- Faber KN, Heyman JA, Subramani S (February 1998). "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". Molecular and Cellular Biology. 18 (2): 936–943. doi:10.1128/mcb.18.2.936. PMC 108805. PMID 9447990.
- Tamura S, Okumoto K, Toyama R, Shimozawa N, Tsukamoto T, Suzuki Y, et al. (April 1998). "Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I". Proceedings of the National Academy of Sciences of the United States of America. 95 (8): 4350–4355. Bibcode:1998PNAS...95.4350T. doi:10.1073/pnas.95.8.4350. PMC 22492. PMID 9539740.
- 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): 883–886. 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): 8630–8635. Bibcode:1998PNAS...95.8630G. doi:10.1073/pnas.95.15.8630. PMC 21127. PMID 9671729.
- Collins CS, Gould SJ (1999). "Identification of a common PEX1 mutation in Zellweger syndrome". Human Mutation. 14 (1): 45–53. doi:10.1002/(SICI)1098-1004(1999)14:1<45::AID-HUMU6>3.0.CO;2-J. PMID 10447258. S2CID 22153024.
- 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): 417–426. doi:10.1042/0264-6021:3570417. PMC 1221968. PMID 11439091.
- Preuss N, Brosius U, Biermanns M, Muntau AC, Conzelmann E, Gartner J (June 2002). "PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease". Pediatric Research. 51 (6): 706–714. doi:10.1203/00006450-200206000-00008. PMID 12032265.
- Maxwell MA, Allen T, Solly PB, Svingen T, Paton BC, Crane DI (November 2002). "Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients". Human Mutation. 20 (5): 342–351. doi:10.1002/humu.10128. PMID 12402331. S2CID 26081019.
- 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): 454–460. doi:10.1038/ncb982. PMID 12717447. S2CID 2426040.
- Dodt G, Walter C (2004). Study of mutant proteins with folding defects in cultured patient cells. Methods Mol. Biol. Vol. 232. pp. 165–73. doi:10.1385/1-59259-394-1:165. ISBN 1-59259-394-1. PMID 12840548.
External links
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