PEX5 Products

Description

The product of the PEX5 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)

Bioinformatics

Uniprot	AAH10621 Human NM_000319 Human P50542 Human P50542-3 Human
Product By Gene ID	5830
Alternate Names	FLJ50634 FLJ50721 Peroxin-5 peroxisomal biogenesis factor 5 Peroxisomal C-terminal targeting signal import receptor peroxisomal targeting signal 1 receptor peroxisomal targeting signal import receptor peroxisomal targeting signal receptor 1 Peroxisome receptor 1peroxin-5 PTS1 receptor PTS1-BP PTS1RFLJ51948 PXR1peroxisomal targeting signal 1 (SKL type) receptor