PEX1

Peroxisome biogenesis factor 1, also known as PEX1, is a human gene.cite web | title = Entrez Gene: PEX1 peroxisome biogenesis factor 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5189| accessdate = ]

PBB_Summary
section_title =
summary_text = This gene encodes a member of the AAA ATPase 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.cite web | title = Entrez Gene: PEX1 peroxisome biogenesis factor 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5189| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Wanders RJ |title=Metabolic and molecular basis of peroxisomal disorders: a review. |journal=Am. J. Med. Genet. A |volume=126 |issue= 4 |pages= 355–75 |year= 2004 |pmid= 15098234 |doi= 10.1002/ajmg.a.20661
*cite journal | author=Crane DI, Maxwell MA, Paton BC |title=PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders. |journal=Hum. Mutat. |volume=26 |issue= 3 |pages= 167–75 |year= 2006 |pmid= 16086329 |doi= 10.1002/humu.20211
*cite journal | author=Naritomi K, Izumikawa Y, Ohshiro S, "et al." |title=Gene assignment of Zellweger syndrome to 7q11.23: report of the second case associated with a pericentric inversion of chromosome 7. |journal=Hum. Genet. |volume=84 |issue= 1 |pages= 79–80 |year= 1990 |pmid= 2606480 |doi=
*cite journal | author=Reuber BE, Germain-Lee E, Collins CS, "et al." |title=Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. |journal=Nat. Genet. |volume=17 |issue= 4 |pages= 445–8 |year= 1997 |pmid= 9398847 |doi= 10.1038/ng1297-445
*cite journal | author=Portsteffen H, Beyer A, Becker E, "et al." |title=Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. |journal=Nat. Genet. |volume=17 |issue= 4 |pages= 449–52 |year= 1997 |pmid= 9398848 |doi= 10.1038/ng1297-449
*cite journal | author=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=Mol. Cell. Biol. |volume=18 |issue= 2 |pages= 936–43 |year= 1998 |pmid= 9447990 |doi=
*cite journal | author=Tamura S, Okumoto K, Toyama R, "et al." |title=Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=95 |issue= 8 |pages= 4350–5 |year= 1998 |pmid= 9539740 |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=Collins CS, Gould SJ |title=Identification of a common PEX1 mutation in Zellweger syndrome. |journal=Hum. Mutat. |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 |doilabel=10.1002/(SICI)1098-1004(1999)14:145::AID-HUMU63.0.CO;2-J
*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=Preuss N, Brosius U, Biermanns M, "et al." |title=PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease. |journal=Pediatr. Res. |volume=51 |issue= 6 |pages= 706–14 |year= 2002 |pmid= 12032265 |doi=
*cite journal | author=Cha H, Kopetzki E, Huber R, "et al." |title=Structural basis of the adaptive molecular recognition by MMP9. |journal=J. Mol. Biol. |volume=320 |issue= 5 |pages= 1065–79 |year= 2002 |pmid= 12126625 |doi=
*cite journal | author=Maxwell MA, Allen T, Solly PB, "et al." |title=Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients. |journal=Hum. Mutat. |volume=20 |issue= 5 |pages= 342–51 |year= 2003 |pmid= 12402331 |doi= 10.1002/humu.10128
*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=Scherer SW, Cheung J, MacDonald JR, "et al." |title=Human chromosome 7: DNA sequence and biology. |journal=Science |volume=300 |issue= 5620 |pages= 767–72 |year= 2003 |pmid= 12690205 |doi= 10.1126/science.1083423
*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=Dodt G, Walter C |title=Study of mutant proteins with folding defects in cultured patient cells. |journal=Methods Mol. Biol. |volume=232 |issue= |pages= 165–73 |year= 2004 |pmid= 12840548 |doi= 10.1385/1-59259-394-1:165
*cite journal | author=Hillier LW, Fulton RS, Fulton LA, "et al." |title=The DNA sequence of human chromosome 7. |journal=Nature |volume=424 |issue= 6945 |pages= 157–64 |year= 2003 |pmid= 12853948 |doi= 10.1038/nature01782

PBB_Controls
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require_manual_inspection = no
update_protein_box = yes
update_summary = yes
update_citations = yes