Tissue expression
Cell line expression
Protein structure
PMP22
Peripheral myelin protein 22CMT1A, GAS3, HMSNIA, HNPP, Sp110
This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. 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 results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Top validated antibodies |
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LSBio | ![]() |
Polyclonal |
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Novus Biologicals | ![]() |
Monoclonal |
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Boster Biological Technology | ![]() |
Polyclonal |
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HUABIO Research | ![]() |
Monoclonal |
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Biorbyt | ![]() |
Recombinant |
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