PEX5 Proteins

Protein Information

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.

Synonyms

AW212715; ESTM1; LOW QUALITY PROTEIN: peroxisomal biogenesis factor 5; PBD2A; PBD2B; peroxin 5; peroxin-5; peroxisomal biogenesis factor 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 biogenesis factor 5; peroxisome receptor 1; PEX5; Pex5_predicted; PTS1 BP; PTS1 receptor; PTS1-BP; PTS1R; PXR1; PXR1P; RCDP5; X83306