PEX5

Description

The PEX5 (peroxisomal biogenesis factor 5) is a protein-coding gene located on chromosome 12.

PEX5, also known as Peroxisomal targeting signal 1 receptor (PTS1R), is a protein involved in the specific transport of molecules for oxidation inside the peroxisome. It binds to PTS1, a peroxisomal targeting sequence, in the cytosol and, with the help of Pex14p receptor, imports the peroxisomal protein through the pexsubunit transporter. Defects in PEX5 can lead to diseases like X-linked adrenoleukodystrophy and Zellweger syndrome. PEX5 interacts with proteins like PEX12, PEX13, and PEX14, suggesting its role in a complex network of protein interactions for peroxisome function.

PEX5 is a receptor that mediates the import of proteins containing a C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) into peroxisomes. It binds to cargo proteins containing a PTS1 peroxisomal targeting signal in the cytosol and translocates them into the peroxisome matrix by passing through the PEX13-PEX14 docking complex along with cargo proteins. PEX5 is then retrotranslocated into the cytosol, leading to the release of bound cargo in the peroxisome matrix, and reset for a subsequent peroxisome import cycle.

PEX5 is also known as PBD2A, PBD2B, PTS1-BP, PTS1R, PXR1, RCDP5.

Associated Diseases

• Neonatal adrenoleukodystrophy
• Peroxisome biogenesis disorder 2B
• Rhizomelic chondrodysplasia punctata, type 5
• Peroxisome biogenesis disorder 2A (Zellweger)
• Infantile Refsum disease
• Zellweger syndrome