基因名：
PEX5
产品别名：
PBD2A； PBD2B； PTS1-BP； PTS1R； PXR1； RCDP5； PEX5； peroxisomal biogenesis factor 5； peroxisomal biogenesis factor 5； peroxisomal biogenesis factor 5； PTS1 receptor； peroxin-5； peroxisomal C-terminal targeting signal import receptor； peroxisomal import receptor 5； 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； 过氧化物酶体生物合成因子5；
背景信息：
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]
