title: Peripheral myelin protein 22: facts and hypotheses.
abstract: Mutations affecting the peripheral myelin protein 22 (PMP22) gene are associated with inherited motor and sensory neuropathies in mouse (Trembler and Trembler-J) and human (Charcot-Marie-Tooth disease type 1A and Dejerine-Sottas syndrome). Although genetic studies have established a critical role of PMP22 in the formation and/or maintenance of myelin in the peripheral nervous system, the biological function of PMP22 in myelin and in non-myelin forming cells remains largely enigmatic. In this Mini-Review, we will summarize the current knowledge about PMP22 and discuss its hypothetical function(s) in a broad context.
authors.affiliation: Department of Cell Biology, Swiss Federal Institute of Technology, Zürich.
authors.forename: U
authors.initials: U
authors.lastname: Suter
authors.forename: G J
authors.initials: GJ
authors.lastname: Snipes
mesh_terms: D000818:Animals; D002607:Charcot-Marie-Tooth Disease; D005796:Genes / Q000235:genetics*; D006801:Humans; D051379:Mice; D008957:Models, Genetic; D009154:Mutation; D009185:Myelin Proteins / Q000235:genetics* / Q000502:physiology
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human; C489545:Pmp22 protein, mouse