PEX10

Description

The PEX10 (peroxisomal biogenesis factor 10) is a protein-coding gene located on chromosome 1.

PEX10, a human protein encoded by the PEX10 gene, plays a crucial role in the import of peroxisomal matrix proteins. This protein resides in the peroxisomal membrane and is involved in the import of proteins into peroxisomes, essential organelles responsible for various metabolic functions. Mutations in the PEX10 gene lead to a range of peroxisomal biogenesis disorders, including Zellweger syndrome and neonatal adrenoleukodystrophy. PEX10 interacts with other proteins involved in peroxisome biogenesis, such as PEX12 and PEX19, highlighting its importance in the complex machinery regulating peroxisome function.

PEX10 acts as an E3 ubiquitin-protein ligase, a key component of a retrotranslocation channel responsible for peroxisome organization. This channel, composed of PEX2, PEX10, and PEX12, facilitates the export of the PEX5 receptor from peroxisomes to the cytosol, promoting PEX5 recycling. PEX10's role in this process is to regulate PEX5 recycling through ubiquitination. When PEX5 recycling is compromised, PEX10 catalyzes the polyubiquitination of PEX5 during its passage through the retrotranslocation channel, ultimately leading to its degradation.

PEX10 is also known as NALD, PBD6A, PBD6B, RNF69.

Associated Diseases

• Neonatal adrenoleukodystrophy
• Autosomal recessive ataxia due to PEX10 deficiency
• Infantile Refsum disease
• Peroxisome biogenesis disorder 6B
• Peroxisome biogenesis disorder 6A (Zellweger)
• Zellweger syndrome