Official Full Name
peroxisomal biogenesis factor 16
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.
PEX16; peroxisomal biogenesis factor 16; Peroxin 16; Peroxin16; Peroxisomal membrane protein PEX16; PEX 16; peroxin-16; peroxisome biogenesis factor 16; PBD8A, PBD8B; im:6894523; zgc:112248