PEX5 Proteins

Protein 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.

Alternative names and synonyms associated with PEX5

• peroxisomal biogenesis factor 5 (pex5) antibody
• peroxisomal biogenesis factor 5 (Pex5) antibody
• peroxisomal biogenesis factor 5 (PEX5) antibody

• AW212715 antibody
• ESTM1 antibody
• PBD2A antibody
• PBD2B antibody
• Peroxin-5 antibody
• Show all synonym aliases
• PTS1-BP antibody
• PTS1R antibody
• PXR1 antibody
• X83306 antibody

Protein level used designations for PEX5

peroxisome biogenesis factor 5 , PTS1 receptor , PTS1-BP , PXR1P , peroxin 5 , peroxisomal C-terminal targeting signal import receptor , peroxisomal targeting signal 1 receptor , peroxisome receptor 1 , peroxin-5 , peroxisomal targeting signal 1 (SKL type) receptor , peroxisomal targeting signal import receptor , peroxisomal targeting signal receptor 1 , PTS1R , Peroxisomal C-terminal targeting signal import receptor , Peroxisome receptor 1