Peroxisomal Biogenesis Factor 6 (PEX6)

PEX6 encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6.Somatic cell fusion complementation analysis indicates that the PBDs can be caused by defects in at least 11 different genes. Because these disorders are associated with a peroxisomal protein sorting defect, a major focus of PBD research has been on the elucidation of the molecular mechanisms of protein import into peroxisomes.