PEX5 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).
Alias Symbols: PTS1R, PXR1, PTS1-BP
Protein Interaction Partner: PEX12,PEX14,AGXT,ATM,DDO,HSPA1A,PDZK1,PEX10,PEX12,PEX13,PEX14,PEX7,SCARB1,SIRT3,SNUPN,SSTR5,ATM,CAT,DDO,PDZK1,PEX10,PEX12,PEX13,PEX14,PEX7,SIRT3,SNUPN
Protein Size: 631