PEX16
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Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Peroxisomal membrane protein PEX16 is a protein that in humans is encoded by the PEX16 gene.[1][2]
Function
[edit | edit source]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.[2]
Interactions
[edit | edit source]PEX16 has been shown to interact with PEX19.[3]
References
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Further reading
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External links
[edit | edit source]- GeneReviews/NCBI/NIH/UW entry on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
- OMIM entries on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
