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The protein encoded by PEX16 is an integral peroxisomal membrane protein.
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PEX16 mediates the peroxisomal trafficking of two distinct peroxisomal membrane proteins, PEX3 (show PEX3 Proteins) and PMP34 (show SLC25A17 Proteins), via the endoplasmic reticulum
Data show that knockdown of Sec16B (show SEC16B Proteins) but not Sec16A by RNAi affected the morphology of peroxisomes, inhibited the transport of Pex16 from the ER to peroxisomes, and suppressed expression of Pex3 (show PEX3 Proteins).
An unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene, with a relatively mild clinical phenotype and an unexpected phenotype in fibroblasts, was identified.
aberrant splicing mutation of the PEX16 gene in patients with Zellweger syndrome (show PEX1 Proteins)
PEX16 regulates peroxisome assembly by being cotranslationally inserted into the ER and serving to recruit other peroxisomal membrane proteins to membranes.
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.
peroxisomal biogenesis factor 16
, peroxin 16
, peroxisomal membrane protein PEX16
, peroxisome biogenesis factor 16