Molecular anatomy and genetics of myelin proteins in the peripheral nervous system.
Myelin contains a number of proteins, the major examples of which are protein zero (Po), P2 protein, peripheral myelin protein 22 (PMP22), myelin basic proteins (MBPs), myelin-associated glycoprotein (MAG) and the recently described connexin 32 (Cx32). This list is probably still incomplete. The localisation and possible functions of these proteins are reviewed. In the past few years a number of inherited demyelinating neuropathies in mice and the human have been shown to be due to mutations affecting the genes PMP22, Po and Cx32 so that it has become possible to characterise the molecular pathology of the majority of these disorders. This has provided important insights into the relationships between the structure of myelin and the function of its constituent proteins.
Snipes
G J
GJ
Department of Neurobiology, Stanford University School of Medicine, California, USA.
Suter
U
U
D000818:Animals; D017630:Connexins / Q000032:analysis / Q000235:genetics; D003711:Demyelinating Diseases / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007150:Immunohistochemistry; D051379:Mice; D009154:Mutation; D009185:Myelin Proteins / Q000032:analysis / Q000235:genetics / Q000502:physiology*; D009186:Myelin Sheath / Q000737:chemistry*; D017933:Peripheral Nervous System / Q000737:chemistry* / Q000378:metabolism; D000097002:Gap Junction beta-1 Protein
D017630:Connexins; D009185:Myelin Proteins; D000097002:Gap Junction beta-1 Protein; C073687:PMP22 protein, human; C489545:Pmp22 protein, mouse