PEX5 Polyclonal Antibody

PEX5

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.

PBS with 0.02% sodium azide, 50% glycerol, pH7.3.

1mg/mL

Unconjugated

IHC 1:50-1:200 IF 1:50-1:200

Recombinant fusion protein of human PEX5 (NP_000310.2).

Affinity purification

PEX5;PBD2A;PBD2B;PTS1-BP;PTS1R;PXR1;RCDP5

P50542