PEX5 polyclonal antibody

Peroxisomes are single-membrane bound organelles present in virtually all eukaryotic cells. They are involved in numerous catabolic and anabolic pathways, including beta-oxidation of very long chain fatty acids, metabolism of hydrogen peroxide, plasmalogen biosynthesis, and bile acid synthesis. The Peroxin gene family, which includes more than 20 members, is required for peroxisome biogenesis. Two members of this family, Peroxin 5 (Pex5) and Peroxin 7 (Pex7), are receptors for proteins that contain the peroxisome targeting signal 1 (PTS1) and 2 (PTS2), respectively, and shuttle these proteins from the cytosol to the peroxisome. Peroxin 5, also designated PTS1 receptor, is expressed as two isoforms, Pex5L and Pex5S. Pex5L transports PTS1 and Pex7-PTS2 cargo complexes to the initial Pex5 docking site, Pex14, while Pex5S transports only PTS1 cargoes. Pex5 and Pex7 also require either direct or indirect interaction with Peroxin 13 (Pex13) for proper import into peroxisomes. Mutations in the Peroxin genes result in peroxisome biogenesis disorders (PBDs). Defects in the Pex5 gene are linked to Zellweger syndrome (cerebro-hapato-renal syndrome) of complementation group 2 (CG2), the most severe form of PBDs. Zellweger syndrome is characterized by abnormal neuronal migration in the central nervous system and severe neurologic dysfunction, which leads to early death.