Peroxisomal Biogenesis Factor 1 (PEX1)

ZWS1; Peroxin-1; Peroxisome biogenesis disorder protein 1

SPN	U136
HGNC	8850
MGI	1918632
PubMed	16086329
RGD	1559939
UniProt	O43933
Wiki	PEX1

Peroxisome biogenesis factor 1 is 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. Human PEX1 expression restored peroxisomal protein import in fibroblasts from 3 patients with Zellweger syndrome and neonatal adrenoleukodystrophy of complementation group 1, which is the peroxisome biogenesis disorder (PBD) of highest incidence.

Reference

"Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders."
Nat. Genet. 17:449-452(1997) [PubMed] [Europe PMC] [Abstract]

"Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders."
Nat. Genet. 17:445-448(1997) [PubMed] [Europe PMC] [Abstract]

"Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I."
Proc. Natl. Acad. Sci. U.S.A. 95:4350-4355(1998) [PubMed] [Europe PMC] [Abstract]

"Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction."
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