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pex16

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Official Full Name
peroxisomal biogenesis factor 16
Background
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.
Synonyms
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

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