{"symbol":"PEX16","synonyms":["PBD8B","PBD8A"],"name":"peroxisomal biogenesis factor 16","description":"The protein encoded by this gene 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. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008]","ncbiEntrezGeneId":9409,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/9409","proteins":[{"symbol":"PEX16_HUMAN","href":"/api/1.0/protein/PEX16_HUMAN"}],"hgncRootFamilies":[]}