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 |
|||||
| LSBio | Polyclonal |
|
|||
| Novus Biologicals | Monoclonal |
|
|||
| Biorbyt | Recombinant |
|
|||
| Boster Biological Technology | Polyclonal |
|
|||
| HUABIO Research | Monoclonal |
|
|||