Peroxisome biogenesis factor 1, also known as PEX1, is a protein which in humans is encoded by the PEX1gene.[5]
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]
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]
^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. PMID9588209.
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. PMID15098234. S2CID24025032.
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. PMID2606480. S2CID44388911.
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. PMID9398847. S2CID34034756.
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. PMID9398848. S2CID2487398.
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. PMID9588209.
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. PMID12717447. S2CID2426040.
Dodt G, Walter C (2004). "Study of Mutant Proteins with Folding Defects in Cultured Patient Cells". Protein Misfolding and Disease. Methods Mol. Biol. Vol. 232. pp. 165–73. doi:10.1385/1-59259-394-1:165. ISBN1-59259-394-1. PMID12840548.
