PEX1 Mouse, Unlabeled, Clone: 1, BD

Description

• Peroxisomes, ubiquitous organelles of eukaryotic cells, are involved in a number of metabolic processes
• Their formation involves membrane generation, targeting and insertion of peroxisomal membrane proteins (PMPs) into the membrane, and transport of matrix proteins across the newly formed membrane
• Import of PMPs and synthesis of peroxisomal membranes may involve as many as 17 different PEX proteins
• Mutation in any of 12 different Pex genes causes Zellweger syndrome (ZS), a disease characterized by loss of peroxisome biogenesis leading to severe neurologic, hepatic, and renal abnormalities
• Mutations in two peroxisomal AAA ATPases, PEX1 and PEX6, are commonly associated with this and other neurological disorders
• These ATPases form a complex in vitro and are required for normal import of proteins targeted to the peroxisome, as well as for maintaining the stability of PEX5, a peroxisomal receptor required for protein import
• Substitution of aspartate for glycine at position 843 in PEX1 is the most common cause of peroxisome biogenesis disorders
• Thus, PEX1 has an essential role in peroxisome biogenesis and mutation leads to Zwellweger syndrome-type diseases
• Host Species: Mouse Clone: 1 Isotype: IgG1 Species Reactivity [for Features Main]: Human Immunogen: Human PE1 aa
• 1049-1256 Western Blotting