PEX26n

PEX26n is a member of the PEX family of proteins, which are involved in various cellular processes including membrane trafficking, cell division, and cell signaling. PEX26n is a specific isoform of PEX26, a protein that plays a crucial role in the peroxisomal biogenesis pathway. Peroxisomes are organelles involved in the metabolism of very long chain fatty acids, branched chain amino acids, and other compounds.

PEX26n is primarily expressed in the liver and plays a significant role in the regulation of peroxisomal function. It is involved in the recruitment of PEX5, another key protein in the peroxisomal biogenesis pathway, to the peroxisomal membrane. This interaction is essential for the proper assembly and function of peroxisomes.

Mutations in the PEX26n gene have been associated with a rare genetic disorder called Zellweger syndrome, which is characterized by severe neurological abnormalities, retinal degeneration, and developmental delays. The specific role of PEX26n in Zellweger syndrome is not fully understood, but it is believed to be involved in the regulation of peroxisomal function in the brain.

In summary, PEX26n is a protein that plays a crucial role in the regulation of peroxisomal function, particularly in the liver. Mutations in the PEX26n gene can lead to a rare genetic disorder called Zellweger syndrome. Further research is needed to fully understand the role of PEX26n in peroxisomal biogenesis and its potential therapeutic implications.