PEX26

The protein anchors PEX1 and PEX6 to peroxisome membranes to form AAA ATPase complexes required for importing proteins into peroxisomes. Mutations cause autosomal recessive peroxisome biogenesis disorders including Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease, and classical rhizomelic chondrodysplasia punctata due to failure of peroxisomal protein import. Loss-of-function mutations disrupt peroxisome assembly and function by preventing proper formation of the protein import machinery.