别名：CMT1A; CMT1E; DSS; GAS-3; GAS3; HMSNIA; HNPP; Sp110

产品概述：PMP22 mouse monoclonal antibody,clone LBI5D1

总结：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]