PEX19

PEX19

A gene on chromosome 1q23.2 that encodes a peroxin involved in early peroxisomal biogenesis, which acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins.
  
Molecular pathology
PEX19 mutations cause peroxisome biogenesis spectrum disorder, complementation type 14 and a clinical form of Zellweger syndrome.
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References in periodicals archive ?
A more practical approach, i.e., a transient expression assay skipping the revertant selection by P12/UV, (39) was also developed for further isolation of PEX cDNAs including nine others, PEX1, PEX3, PEX5, PEX6, PEX12, PEX13, PEX14, PEX19, and PEX26 (21), (34), (40)-(48) (Table 3; Fig.
Defects of PEX3, PEX16 and PEX19 encoding membrane-assembly peroxins lead to absence of ghosts and cause ZS phenotypes.
Three mammalian peroxins, Pex3p, Pex16p, and Pex19p, exclusively required for peroxisomal membrane assembly were isolated by the functional phenotype-complementation assay on pex3 and pex19 CHO cell mutants (41), (47) and the EST database search using yeast PEX genes.
(1999) Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly.
(2000) PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis.
(2004) PEX3 functions as a PEX19 docking factor in the import of class I peroxisomal membrane proteins.
(2012) The role of conserved PEX3 regions in PEX19 binding and peroxisome biogenesis.