PEX27

PEX27 is a protein-coding gene located on chromosome 10 in humans. It is part of the PEX family of genes, which are involved in the assembly and function of the peroxisome, an organelle involved in various metabolic processes. PEX27 encodes for a protein that plays a crucial role in the import of proteins into the peroxisome. Mutations in the PEX27 gene have been associated with a rare genetic disorder known as Zellweger syndrome (ZS), which is characterized by severe developmental delay, vision impairment, and neurological abnormalities. The protein encoded by PEX27 is also involved in the peroxisomal beta-oxidation of very-long-chain fatty acids, a process essential for the metabolism of certain lipids. The exact mechanism by which PEX27 functions within the peroxisome is still an active area of research. Studies have shown that PEX27 interacts with other PEX proteins, such as PEX5 and PEX19, to facilitate the transport of proteins into the peroxisome. The gene is highly conserved across species, suggesting its importance in peroxisomal function. Research into PEX27 and its role in peroxisomal biology continues to provide insights into the molecular mechanisms underlying peroxisomal disorders and their potential treatments.