{"symbol":"PMP22","synonyms":["CMT1A","HNPP","Sp110","GAS-3","HMSNIA","CMT1E","GAS3","CIDP"],"name":"peripheral myelin protein 22","description":"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]","ncbiEntrezGeneId":5376,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/5376","proteins":[{"symbol":"PMP22_HUMAN","href":"/api/1.0/protein/PMP22_HUMAN"}],"hgncRootFamilies":[]}