The PEX6 gene has been mapped to chromosome 6p21.1. This gene provides instruction for making a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. The protein is made up of 980 amino acids and weighs about 104 kDa. It is a predominantly cytoplasmic protein, which is involved in peroxisome biosynthesis, and is required for PTS1 receptor activity. Anchored by PEX26 to peroxisome membranes, it forms heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes.
Defects in this gene are the cause of peroxisome biogenesis disorders of complementation group 4 (Zellweger syndrome) and complementation group 6. Zellweger syndrome is the most severe variant seen in the peroxisome biogenesis disorders, characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.
The PEX6 gene consists of 17 coding exons, and spans approximately 15 kb in the genomic DNA. Mutations in the PEX6 gene are associated with peroxisome biogenesis disorders of complementation group 4 (Zellweger syndrome) and complementation group 6.