PMP22 Back

peripheral myelin protein 22

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NCBI Description of PMP22
This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing of this gene results in three transcript variants that encode the same protein.

Community Annotation of PMP22 Add / Edit PMP22: 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

PMP22 is highly significantly mutated in
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PMP22 is significantly mutated in
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PMP22 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 PMP22