PEX16 Back

peroxisomal biogenesis factor 16

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NCBI Description of PEX16
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.

Community Annotation of PEX16 Add / Edit PEX16: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

PEX16 is highly significantly mutated in
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PEX16 is significantly mutated in
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PEX16 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for PEX16