This Antibody was verified by Knockdown to ensure that the antibody binds to the antigen stated. View Details
Immunogen sequence: RAQAEQWAAE FIQQQGTSDA WVDQFTRPVN TSALDMEFER AKSAIESDVD FWDKLQAELE EMAKRDAEAH PWLSDYDDLT SATYDKGYQF EEEN
Highest antigen sequence identity to the following orthologs: Mouse - 91%, Rat - 92%.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Peroxin-5; Peroxisomal C-terminal targeting signal import receptor; 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; PTS1 receptor; PTS1-BP; PTS1R; PXR1
Gene Aliases: PBD2A; PBD2B; PEX5; PTS1-BP; PTS1R; PXR1; RCDP5
UniProt ID: (Human) P50542
Entrez Gene ID: (Human) 5830