Products

Western Blot (Transfected lysate)

ELISA

Entrez GeneID

GeneBank Accession#

Gene Name

PEX5

Gene Alias

FLJ50634, FLJ50721, FLJ51948, PTS1-BP, PTS1R, PXR1

Gene Description

peroxisomal biogenesis factor 5

Omim ID

Gene Ontology

Gene Summary

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

Other Designations

peroxin-5|peroxisomal C-terminal targeting signal import receptor|peroxisomal targeting signal 1 (SKL type) receptor|peroxisomal targeting signal import receptor|peroxisomal targeting signal receptor 1|peroxisome receptor 1