PEX19(redirected from D1S2223E)
PEX19A 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.
PEX19 mutations cause peroxisome biogenesis spectrum disorder, complementation type 14 and a clinical form of Zellweger syndrome.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.