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. [provided by RefSeq, Oct 2008]
Synonyms: FLJ50634, FLJ50721, FLJ51948, Peroxin 5, Peroxin-5, Peroxisomal biogenesis factor 5, Peroxisomal C terminal targeting signal import receptor, Peroxisomal C-terminal targeting signal import receptor, Peroxisomal targeting signal 1 receptor, Peroxisome receptor 1, pex5, PEX5_HUMAN, PTS1 BP, PTS1 receptor, PTS1-BP, PTS1R, PXR1.