PMP22, Official Symbol PMP22provided by HGNC Official Full Name peripheral myelin protein 22provided by HGNC Primary source HGNC:HGNC:9118 See related Ensembl:ENSG00000109099 MIM:601097; AllianceGenome:HGNC:9118 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DSS; CIDP; GAS3; HNPP; CMT1A; CMT1E; GAS-3; Sp110; HMSNIA Summary 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] Expression Broad expression in small intestine (RPKM 54.6), placenta (RPKM 43.6) and 22 other tissues See more Orthologs mouse all