Peripheral myelin protein 22: facts and hypotheses

J Neurosci Res. 1995 Feb 1;40(2):145-51. doi: 10.1002/jnr.490400202.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Animals
  • Charcot-Marie-Tooth Disease
  • Genes / genetics*
  • Humans
  • Mice
  • Models, Genetic
  • Mutation
  • Myelin Proteins / genetics*
  • Myelin Proteins / physiology

Substances

  • Myelin Proteins
  • PMP22 protein, human
  • Pmp22 protein, mouse