Myelin protein zero

Symbol Myelin-PO_C
Pfam PF10570
InterPro IPR019566
OPM superfamily 230
OPM protein 3oai
Available structures
PDBOrtholog search: PDBe RCSB
Aliases MPZ, CHM, CMT1, CMT1B, CMT2I, CMT2J, CMT4E, CMTDI3, CMTDID, DSS, HMSNIB, MPP, P0, myelin protein zero
External IDs OMIM: 159440 MGI: 103177 HomoloGene: 445 GeneCards: MPZ
RNA expression pattern
More reference expression data
Species Human Mouse









RefSeq (mRNA)



RefSeq (protein)



Location (UCSC) Chr 1: 161.3 – 161.31 Mb Chr 1: 171.15 – 171.16 Mb
PubMed search [1] [2]
View/Edit HumanView/Edit Mouse

Myelin protein zero (P0, MPZ) is a glycoprotein which in humans is encoded by the MPZ gene. P0 is a major structural component of the myelin sheath, and its deficiency due to various mutations in the MPZ gene is associated with Charcot–Marie–Tooth disease and Dejerine–Sottas disease.


The myelin sheath is a multi-layered membrane, unique to the nervous system, that functions as an insulator to greatly increase the velocity of axonal impulse conduction. The P0 glycoprotein, absent in the central nervous system,[3] is a major component of the myelin sheath in peripheral nerves. It comprises a large extracellular N-terminal domain, a single transmembrane region, and a smaller positively charged intracellular domain. It is postulated that P0 is a structural element in the formation and stabilisation of peripheral nerve myelin,[4] holding its characteristic coil structure together by the interaction of its positively charged domain with acidic lipids in the cytoplasmic face of the opposed bilayer, and by interaction between hydrophobic globular `heads' of adjacent extracellular domains.[3]


Myelin protein zero has been shown to interact with peripheral myelin protein 22.[5]

See also


  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. 1 2 Sakamoto Y, Kitamura K, Yoshimura K, Nishijima T, Uyemura K (March 1987). "Complete amino acid sequence of P0 protein in bovine peripheral nerve myelin". J. Biol. Chem. 262 (9): 4208–14. PMID 2435734.
  4. Lemke G, Axel R (March 1985). "Isolation and sequence of a cDNA encoding the major structural protein of peripheral myelin". Cell. 40 (3): 501–8. doi:10.1016/0092-8674(85)90198-9. PMID 2578885.
  5. D'Urso, D; Ehrhardt P; Müller H W (May 1999). "Peripheral myelin protein 22 and protein zero: a novel association in peripheral nervous system myelin" (PDF). J. Neurosci. United States: Society for Neuroscience. 19 (9): 3396–403. ISSN 1529-2401. PMID 10212299.

Further reading

  • Patel PI, Lupski JR (1994). "Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease.". Trends Genet. 10 (4): 128–33. doi:10.1016/0168-9525(94)90214-3. PMID 7518101. 
  • Roa BB, Lupski JR (1995). "Molecular genetics of Charcot-Marie-Tooth neuropathy.". Adv. Hum. Genet. 22: 117–52. doi:10.1007/978-1-4757-9062-7_3. PMID 7762451. 
  • Nelis E, Haites N, Van Broeckhoven C (1999). "Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.". Hum. Mutat. 13 (1): 11–28. doi:10.1002/(SICI)1098-1004(1999)13:1<11::AID-HUMU2>3.0.CO;2-A. PMID 9888385. 
  • Watanabe M, Yamamoto N, Ohkoshi N, et al. (2002). "Corticosteroid- responsive asymmetric neuropathy with a myelin protein zero gene mutation.". Neurology. 59 (5): 767–9. doi:10.1212/wnl.59.5.767. PMID 12221176. 
  • Hattori N, Yamamoto M, Yoshihara T, et al. (2003). "Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.". Brain. 126 (Pt 1): 134–51. doi:10.1093/brain/awg012. PMID 12477701. 
  • Shy ME (2006). "Peripheral neuropathies caused by mutations in the myelin protein zero.". J. Neurol. Sci. 242 (1–2): 55–66. doi:10.1016/j.jns.2005.11.015. PMID 16414078. 
  • Hayasaka K, Nanao K, Tahara M, et al. (1991). "Isolation and sequence determination of cDNA encoding the major structural protein of human peripheral myelin.". Biochem. Biophys. Res. Commun. 180 (2): 515–8. doi:10.1016/S0006-291X(05)81094-0. PMID 1719967. 
  • Ouvrier RA, McLeod JG, Conchin TE (1987). "The hypertrophic forms of hereditary motor and sensory neuropathy. A study of hypertrophic Charcot-Marie-Tooth disease (HMSN type I) and Dejerine-Sottas disease (HMSN type III) in childhood.". Brain. 110 (1): 121–48. doi:10.1093/brain/110.1.121. PMID 3467805. 
  • Tachi N, Ishikawa Y, Minami R (1985). "Two cases of congenital hypomyelination neuropathy.". Brain Dev. 6 (6): 560–5. doi:10.1016/s0387-7604(84)80101-1. PMID 6099985. 
  • Hayasaka K, Himoro M, Wang Y, et al. (1993). "Structure and chromosomal localization of the gene encoding the human myelin protein zero (MPZ).". Genomics. 17 (3): 755–8. doi:10.1006/geno.1993.1400. PMID 7503936. 
  • Su Y, Brooks DG, Li L, et al. (1993). "Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients.". Proc. Natl. Acad. Sci. U.S.A. 90 (22): 10856–60. doi:10.1073/pnas.90.22.10856. PMC 47877Freely accessible. PMID 7504284. 
  • Himoro M, Yoshikawa H, Matsui T, et al. (1994). "New mutation of the myelin P0 gene in a pedigree of Charcot-Marie-Tooth neuropathy 1.". Biochem. Mol. Biol. Int. 31 (1): 169–73. PMID 7505151. 
  • Hayasaka K, Himoro M, Sawaishi Y, et al. (1994). "De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).". Nat. Genet. 5 (3): 266–8. doi:10.1038/ng1193-266. PMID 7506095. 
  • Pham-Dinh D, Fourbil Y, Blanquet F, et al. (1994). "The major peripheral myelin protein zero gene: structure and localization in the cluster of Fc gamma receptor genes on human chromosome 1q21.3-q23.". Hum. Mol. Genet. 2 (12): 2051–4. doi:10.1093/hmg/2.12.2051. PMID 7509228. 
  • Thomas FP, Lebo RV, Rosoklija G, et al. (1994). "Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome.". Acta Neuropathol. 87 (1): 91–7. doi:10.1007/BF00386259. PMID 7511317. 
  • Nelis E, Timmerman V, De Jonghe P, et al. (1995). "Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene.". Hum. Genet. 94 (6): 653–7. doi:10.1007/bf00206959. PMID 7527371. 
  • Hilmi S, Fournier M, Valeins H, et al. (1995). "Myelin P0 glycoprotein: identification of the site phosphorylated in vitro and in vivo by endogenous protein kinases.". J. Neurochem. 64 (2): 902–7. doi:10.1046/j.1471-4159.1995.64020902.x. PMID 7530295. 
  • Rautenstrauss B, Nelis E, Grehl H, et al. (1995). "Identification of a de novo insertional mutation in P0 in a patient with a Déjérine-Sottas syndrome (DSS) phenotype.". Hum. Mol. Genet. 3 (9): 1701–2. doi:10.1093/hmg/3.9.1701. PMID 7530550. 
  • Latour P, Blanquet F, Nelis E, et al. (1995). "Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B.". Hum. Mutat. 6 (1): 50–4. doi:10.1002/humu.1380060110. PMID 7550231. 
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This article incorporates text from the public domain Pfam and InterPro IPR019566

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