The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6

Human genetic peroxisomal biogenesis disorders (PBDs), such as Zellweger sy ndrome, comprise 13 different complementation groups (CGs). Eleven peroxin genes. termed PEXs, responsible for PBDs have been identified, whereas path ogenic genes for PBDs of 2CGs, CG-A (the same CG as CG8 in the United State s and Europe) and CG6, remained unidentified. We herein provide several lin es of novel evidence indicating chat PEX6, the pathogenic gene for CG4. is impaired in PBD of CG6. Expression of PEX6 restored peroxisome assembly in fibroblasts from a CG6 PBD patient. This patient was a compound heterozygot e for PEX6 gene alleles, Accordingly, by merging CG6 with CG4, human PBDs a re now classified into 12 CGs.