Peroxisomal Biogenesis Factor 1 (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.