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.PMP22 (Peripheral Myelin Protein 22) is a Protein Coding gene. Diseases associated with PMP22 include Neuropathy, Recurrent, With Pressure Palsies and Charcot-Marie-Tooth Disease, Type 1A. Among its related pathways are Neural Crest Differentiation and a6b1 and a6b4 Integrin signaling. An important paralog of this gene is EMP2.