PEX19 Human

The PEX19 gene encodes the peroxisomal farnesylated protein, which is necessary for early peroxisomal biogenesis . The gene is located on chromosome 1 and produces multiple transcript variants through alternative splicing . The protein itself acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs) .

PEX19 is essential for the assembly of functional peroxisomes. It binds and stabilizes newly synthesized PMPs in the cytoplasm by interacting with their hydrophobic membrane-spanning domains . PEX19 then targets these PMPs to the peroxisome membrane by binding to the integral membrane protein PEX3 . This process ensures that peroxisomes are properly formed and maintained, allowing them to carry out their metabolic functions effectively .

Mutations in the PEX19 gene can lead to peroxisome biogenesis disorders (PBDs), which are a group of genetically heterogeneous, autosomal recessive diseases characterized by multiple defects in peroxisome function . One such disorder is Zellweger syndrome (ZWS), a severe condition that affects the development of the brain, liver, and kidneys . Patients with PBDs exhibit defects in the import of one or more classes of peroxisomal matrix proteins into the organelle .

Recombinant PEX19 is produced using various expression systems, such as E. coli, to study its function and role in peroxisomal biogenesis . The recombinant protein is often tagged with His-ABP for purification purposes and is used in various research applications, including blocking assays and protein interaction studies .

Research on PEX19 has provided valuable insights into the mechanisms of peroxisomal biogenesis and the pathogenesis of related disorders. Understanding the function of PEX19 and its interactions with other peroxins is crucial for developing potential therapeutic strategies for PBDs .