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Gene Review

Pmp22  -  peripheral myelin protein 22

Mus musculus

Synonyms: 22kDa, GAS-3, Gas-3, Gas3, Growth arrest-specific protein 3, ...
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Disease relevance of Pmp22


High impact information on Pmp22

  • These findings suggest that Tr beta controls the maturation of auditory function but not morphogenesis of the cochlea [6].
  • Thrb-/- mice provide a model for the human endocrine disorder of resistance to thyroid hormone (RTH), which is typically associated with dominant mutations in Tr beta [6].
  • Peripheral myelin protein PMP22 has been suggested to have a role in peripheral nerve myelination and cell proliferation [1].
  • Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder that causes episodes of focal demyelinating neuropathy following minor trauma to peripheral nerves [7].
  • We assign the HNPP locus to chromosome 17p11.2 and demonstrate the presence of a large interstitial deletion associated with this disorder in three unrelated pedigrees [7].

Chemical compound and disease context of Pmp22


Biological context of Pmp22


Anatomical context of Pmp22

  • We investigated the intracellular transport of wild-type PMP22 and its TrJ and Tr mutant forms in Schwann cells and in a non-neuronal cell line [3].
  • In agreement with the findings in vitro, Tr protein was not detectable in myelin of Tr/0 mice [13].
  • In spite of their differences, Tr/?, putative TrJ/+, and putative TrJ/TrJ animals shared a failure or marked delay of Schwann cells to progress from the stage of axonal ensheathment in a 1:1 relationship to myelination [12].
  • Trembler (Tr) is an autosomal dominant mutation which produces hypomyelination and demyelination in the mouse peripheral nervous system [12].
  • Another result was that PO levels are reduced in the trembler mouse sciatic nerve [14].

Associations of Pmp22 with chemical compounds


Regulatory relationships of Pmp22

  • MBP species are at most 4% of the control in the 10- to 12-d-old Trembler mice, whereas they were not detectable in adult nerves [20].
  • A significant increase of the Ca2+-stimulated ATPase activity promoted a drastic loss in the efficiency of the calcium pumping system of the membrane purified from trembler mice [21].

Other interactions of Pmp22


Analytical, diagnostic and therapeutic context of Pmp22


  1. Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice. Adlkofer, K., Martini, R., Aguzzi, A., Zielasek, J., Toyka, K.V., Suter, U. Nat. Genet. (1995) [Pubmed]
  2. The peripheral myelin protein 22 and epithelial membrane protein family. Jetten, A.M., Suter, U. Prog. Nucleic Acid Res. Mol. Biol. (2000) [Pubmed]
  3. Overloaded endoplasmic reticulum-Golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22. D'Urso, D., Prior, R., Greiner-Petter, R., Gabreëls-Festen, A.A., Müller, H.W. J. Neurosci. (1998) [Pubmed]
  4. Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating tomaculous neuropathy. Adlkofer, K., Frei, R., Neuberg, D.H., Zielasek, J., Toyka, K.V., Suter, U. J. Neurosci. (1997) [Pubmed]
  5. Identification of the regulatory region of the peripheral myelin protein 22 (PMP22) gene that directs temporal and spatial expression in development and regeneration of peripheral nerves. Maier, M., Berger, P., Nave, K.A., Suter, U. Mol. Cell. Neurosci. (2002) [Pubmed]
  6. Thyroid hormone receptor beta is essential for development of auditory function. Forrest, D., Erway, L.C., Ng, L., Altschuler, R., Curran, T. Nat. Genet. (1996) [Pubmed]
  7. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Chance, P.F., Alderson, M.K., Leppig, K.A., Lensch, M.W., Matsunami, N., Smith, B., Swanson, P.D., Odelberg, S.J., Disteche, C.M., Bird, T.D. Cell (1993) [Pubmed]
  8. Developmental abnormalities in the nerves of peripheral myelin protein 22-deficient mice. Amici, S.A., Dunn, W.A., Notterpek, L. J. Neurosci. Res. (2007) [Pubmed]
  9. Abnormal sulfate metabolism in a hereditary demyelinating neuropathy. Matthieu, J.M., Reigner, J., Costantino-Ceccarini, E., Bourre, J.M., Rutti, M. Brain Res. (1980) [Pubmed]
  10. Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Matsunami, N., Smith, B., Ballard, L., Lensch, M.W., Robertson, M., Albertsen, H., Hanemann, C.O., Müller, H.W., Bird, T.D., White, R. Nat. Genet. (1992) [Pubmed]
  11. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Patel, P.I., Roa, B.B., Welcher, A.A., Schoener-Scott, R., Trask, B.J., Pentao, L., Snipes, G.J., Garcia, C.A., Francke, U., Shooter, E.M., Lupski, J.R., Suter, U. Nat. Genet. (1992) [Pubmed]
  12. Comparison of Trembler and Trembler-J mouse phenotypes: varying severity of peripheral hypomyelination. Henry, E.W., Cowen, J.S., Sidman, R.L. J. Neuropathol. Exp. Neurol. (1983) [Pubmed]
  13. Aberrant protein trafficking in Trembler suggests a disease mechanism for hereditary human peripheral neuropathies. Naef, R., Adlkofer, K., Lescher, B., Suter, U. Mol. Cell. Neurosci. (1997) [Pubmed]
  14. Development and applications of a solid-phase radioimmunoassay for the PO protein of peripheral myelin. Fryxell, K.J., Balzer, D.R., Brockes, J.P. J. Neurochem. (1983) [Pubmed]
  15. Animal models of inherited neuropathies. Zu Hörste, G.M., Nave, K.A. Curr. Opin. Neurol. (2006) [Pubmed]
  16. Developmental expression of the P0 glycoprotein and basic protein mRNAs in normal and trembler mutant mice. Garbay, B., Domec, C., Fournier, M., Bonnet, J. J. Neurochem. (1989) [Pubmed]
  17. Expression of myelin proteins in the adult heterozygous Trembler mouse. Vallat, J.M., Sindou, P., Garbay, B., Preux, P.M., Anani, T., Richard, L., Diot, M. Acta Neuropathol. (1999) [Pubmed]
  18. The myelin-associated glycoprotein of the peripheral nervous system in trembler mutants contains increased alpha 2-3 sialic acid and galactose. Bartoszewicz, Z.P., Lauter, C.J., Quarles, R.H. J. Neurosci. Res. (1996) [Pubmed]
  19. Improved myelination in nerve grafts from the leucodystrophic twitcher into trembler mice: evidence for enzyme replacement. Scaravilli, F., Jacobs, J.M. Brain Res. (1982) [Pubmed]
  20. Po, MBP, histone, and DNA levels in sciatic nerve. Postnatal accumulation studies in normal and trembler mice. Garbay, B., Fournier, M., Sallafranque, M.L., Muller, S., Boiron, F., Heape, A., Cassagne, C., Bonnet, J. Neurochemical pathology. (1988) [Pubmed]
  21. Sarcoplasmic reticulum vesicles from trembler mice: a comparison with material obtained from normal animals. Avéret, N., Brèthes, D., Chevallier, J. Neurosci. Lett. (1980) [Pubmed]
  22. Myelin-associated glycoprotein and other proteins in Trembler mice. Inuzuka, T., Quarles, R.H., Heath, J., Trapp, B.D. J. Neurochem. (1985) [Pubmed]
  23. Myelin basic protein deposition in the optic and sciatic nerves of dysmyelinating mutants quaking, jimpy, Trembler, mld, and shiverer during development. Jacque, C., Delassalle, A., Raoul, M., Baumann, N. J. Neurochem. (1983) [Pubmed]
  24. Identification and functional characterization of mouse TPO1 as a myelin membrane protein. Fukazawa, N., Ayukawa, K., Nishikawa, K., Ohashi, H., Ichihara, N., Hikawa, Y., Abe, T., Kudo, Y., Kiyama, H., Wada, K., Aoki, S. Brain Res. (2006) [Pubmed]
  25. Over-expression of MBP and PLP messenger RNA in 8-day-old trembler brain. Bascles, L., Bonnet, J., Garbay, B. Neuroreport (1994) [Pubmed]
  26. Myelin-deficient rat: analysis of myelin proteins. Yanagisawa, K., Duncan, I.D., Hammang, J.P., Quarles, R.H. J. Neurochem. (1986) [Pubmed]
  27. P0 protein in normal, trembler heterozygous/homozygous mice during active PNS myelination. Garbay, B., Bonnet, J. Neuroreport (1992) [Pubmed]
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