PEX1

1WLF518971382ENSG00000127980ENSMUSG00000005907O43933Q5BL07NM_000466NM_001282677NM_001282678NM_001293806NM_027777NM_177211NP_000457NP_001269606NP_001269607NP_001280735NP_082053Peroxisome biogenesis factor 1, also known as PEX1, is a protein which in humans is encoded by the PEX1 gene. Peroxisome biogenesis factor 1, also known as PEX1, is a protein which in humans is encoded by the PEX1 gene. 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. PEX1 has been shown to interact with PEX6 and PEX26.