PEX2 Back

peroxisomal biogenesis factor 2

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NCBI Description of PEX2

This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein.

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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).


PEX2 is highly significantly mutated in
PEX2 is significantly mutated in
PEX2 is near significance in

Click on a tumor type to see its full list of significant genes.

Data details

Mutation list for PEX2