Molecular Neurobiology

, Volume 47, Issue 2, pp 673–698 | Cite as

The PMP22 Gene and Its Related Diseases

  • Jun Li
  • Brett Parker
  • Colin Martyn
  • Chandramohan Natarajan
  • Jiasong Guo


Peripheral myelin protein-22 (PMP22) is primarily expressed in the compact myelin of the peripheral nervous system. Levels of PMP22 have to be tightly regulated since alterations of PMP22 levels by mutations of the PMP22 gene are responsible for >50 % of all patients with inherited peripheral neuropathies, including Charcot–Marie–Tooth type-1A (CMT1A) with trisomy of PMP22, hereditary neuropathy with liability to pressure palsies (HNPP) with heterozygous deletion of PMP22, and CMT1E with point mutations of PMP22. While overexpression and point-mutations of the PMP22 gene may produce gain-of-function phenotypes, deletion of PMP22 results in a loss-of-function phenotype that reveals the normal physiological functions of the PMP22 protein. In this article, we will review the basic genetics, biochemistry and molecular structure of PMP22, followed by discussion of the current understanding of pathogenic mechanisms involving in the inherited neuropathies with mutations in PMP22 gene.


PMP22 Myelin Peripheral nerve CMT1A HNPP Demyelination Conduction Velocity 



This work is, in part, supported by NIH (R01NS066927) and Veterans Affair (BLR&D).


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Copyright information

© Springer Science+Business Media New York (outside the USA) 2012

Authors and Affiliations

  • Jun Li
    • 1
    • 2
    • 3
  • Brett Parker
    • 1
    • 2
  • Colin Martyn
    • 1
    • 2
  • Chandramohan Natarajan
    • 1
    • 2
  • Jiasong Guo
    • 1
    • 2
  1. 1.VA Tennessee Valley Healthcare SystemNashvilleUSA
  2. 2.Department of Neurology, Vanderbilt Brain Institute, Center for Human Genetics ResearchVanderbilt University School of MedicineNashvilleUSA
  3. 3.Department of NeurologyVanderbilt UniversityNashvilleUSA

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