Background：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.
仕様
Synonyms：FLJ50634,FLJ50721,FLJ51948,PBD2A,PBD2B,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 （SKL type） receptor,Peroxisomal targeting signal 1 receptor,Peroxisomal targeting signal import receptor,Peroxisomal targeting signal receptor 1,Peroxisome receptor 1,pex5,PEX5,PTS1 BP,PTS1 receptor,PTS1-BP,PTS1R,PXR1
