PEX12

Description

The PEX12 (peroxisomal biogenesis factor 12) is a protein-coding gene located on chromosome 17.

Peroxisome assembly protein 12 (PEX12) is a protein encoded by the PEX12 gene in humans. PEX12 is essential for protein import into peroxisomes, and it belongs to the peroxin-12 family. Peroxins (PEXs) are proteins crucial for the assembly of functional peroxisomes. Defects in peroxisome biogenesis, known as peroxisome biogenesis disorders (PBDs), can lead to severe health problems, often manifesting as lethal conditions in infancy. PEX12 interacts with other peroxins like PEX10, PEX5, and PEX19.

PEX12 is a component of the PEX2-PEX10-PEX12 retrotranslocation channel, which is involved in the export of the PEX5 receptor from peroxisomes to the cytosol. This channel is composed of PEX2, PEX10, and PEX12, with each subunit contributing transmembrane segments that assemble into an open channel that allows the passage of PEX5 through the peroxisomal membrane. PEX12 also regulates PEX5 recycling by activating the E3 ubiquitin-protein ligase activity of PEX10. When PEX5 recycling is compromised, PEX12 stimulates PEX10-mediated polyubiquitination of PEX5, leading to its subsequent degradation.

PEX12 is also known as PAF-3, PBD3A.

Associated Diseases

• Zellweger syndrome
• Peroxisome biogenesis disorder 3B
• Infantile Refsum disease
• Peroxisome biogenesis disorder 3A (Zellweger)
• Neonatal adrenoleukodystrophy