PEX5 Antibody

The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD) . Alternatively spliced transcript variants encoding different isoforms have been identified.

PEX5, peroxisomal biogenesis factor 5, FLJ50634, FLJ50721, FLJ51948, PTS1-BP, PTS1R, PXR1, OTTHUMP00000238192, OTTHUMP00000238193, OTTHUMP00000238194, OTTHUMP00000238195, OTTHUMP00000238353, OTTHUMP00000238354, OTTHUMP00000238356, PTS1 receptor, peroxin-5