PEX2

Description

The PEX2 (peroxisomal biogenesis factor 2) is a protein-coding gene located on chromosome 8.

The PEX2 gene encodes a protein called peroxisomal biogenesis factor 2, an integral peroxisomal membrane protein essential for peroxisome biogenesis. This protein is involved in peroxisomal matrix protein import. Mutations in PEX2 can cause Zellweger syndrome and infantile Refsum disease. Alternative splicing produces multiple transcript variants that encode the same protein.

PEX2 is an E3 ubiquitin-protein ligase that forms a retrotranslocation channel with PEX10 and PEX12. This channel exports the PEX5 receptor from peroxisomes to the cytosol, allowing PEX5 recycling. PEX2 also ubiquitinates PEX5 during its passage through the channel, monoubiquitinating it at 'Cys-11' to signal its extraction into the cytosol. PEX2 plays a role in pexophagy, mediating the ubiquitination of peroxisomal proteins like PEX5 and ABCD3/PMP70 in response to starvation. It also regulates lipolysis by mediating the polyubiquitination and subsequent degradation of PNPLA2/ATGL in response to reactive oxygen species (ROS).

PEX2 is also known as PAF1, PBD5A, PBD5B, PMP3, PMP35, PXMP3, RNF72, ZWS3.

Associated Diseases

• Neonatal adrenoleukodystrophy
• Infantile Refsum disease
• Peroxisome biogenesis disorder 5A (Zellweger)
• Peroxisome biogenesis disorder 5B
• Zellweger syndrome