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Official Symbol:	PEX5
NCBI Gene ID:	5830
Aliases:	PBD2A PBD2B PTS1-BP PTS1R PXR1 RCDP5
Official Full Name:	peroxisomal biogenesis factor 5
Species:	human
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, Oct 2008].

 

Buy raPOOLs for PEX5

There is no existing raPOOL for your gene, hence a custom raPOOL set up service is required. Please add this to cart and proceed to choose the raPOOL scale required where 2, 5 or 10 nmol is sufficient for 20, 50 or 100 reactions with the recommended use of 100 pmol raPOOL per reaction.