Peroxisomal Biogenesis Factor 16 (PEX16)

PEX16 is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Among 13 peroxisome-deficiency complementation groups, PEX16 expression morphologically and biochemically restored peroxisome biogenesis only in fibroblasts from a case of Zellweger syndrome of the complementation group referred to as CGD in Japan and CG9 in the United States. PEX16 was localized to peroxisomes through expression study of epitope-labeled PEX16 protein.