Biophysical Characterization of the Pathogenic PEX26 F51L

Peroxisomes are membrane-bound organelles that perform numerous functions including lipid metabolism and the detoxification of reactive oxygen species. The formation and function of these organelles depend on PEX proteins, and mutations in these proteins cause Zellweger Spectrum Disorders (ZSDs) which can be life-threatening, and currently have no cure. One PEX protein, PEX26, tethers the PEX1/PEX6 complex to the membrane of the peroxisome, helping import metabolic proteins into the lumen of the peroxisome. In this project, I investigate the biophysical characteristics of the F51L mutation of PEX26 which causes sensorineural hearing loss in patients. I also examine how this mutation, along with other variants of PEX26, play a role in the interactions between PEX26 and the PEX1/PEX6 complex.