PEX17osat

PEX17osat is a protein that in humans is encoded by the PEX17 gene. This gene is located on chromosome 15 and is part of the peroxisome biogenesis factor 17 (PBF17) family. PEX17osat plays a crucial role in the biogenesis of peroxisomes, which are organelles involved in various metabolic processes, including the oxidation of very long-chain fatty acids, the degradation of hydrogen peroxide, and the synthesis of plasmalogens.

The PEX17 gene is approximately 10 kilobases in length and contains 10 exons. It is highly conserved across species, indicating its importance in cellular function. Mutations in the PEX17 gene have been associated with Zellweger syndrome (ZS), a rare genetic disorder characterized by severe developmental delay, vision loss, and neurological abnormalities. ZS is caused by mutations in multiple genes involved in peroxisome biogenesis, including PEX17.

PEX17osat is a type I membrane protein that localizes to the peroxisomal membrane. It interacts with other peroxisomal proteins, such as PEX14 and PEX16, to form a complex that is essential for the recruitment and integration of peroxisomal matrix proteins. The PEX17 protein is also involved in the transport of peroxisomal matrix proteins to the peroxisomal membrane.

In summary, PEX17osat is a critical protein in the biogenesis of peroxisomes, with mutations in the PEX17 gene leading to Zellweger syndrome. Its role in peroxisome function highlights the importance of these organelles in cellular metabolism and development.