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.