Myelin protein zero

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Symbol Myelin-PO_C
Pfam PF10570
InterPro IPR019566
OPM superfamily 230
OPM protein 3oai
Myelin protein zero
Protein MPZ PDB 1neu.png
PDB rendering based on 1neu.
Available structures
PDB Ortholog search: PDBe, RCSB
External IDs OMIM159440 MGI103177 HomoloGene445 GeneCards: MPZ Gene
RNA expression pattern
PBB GE MPZ 210280 at tn.png
More reference expression data
Species Human Mouse
Entrez 4359 17528
Ensembl ENSG00000158887 ENSMUSG00000056569
UniProt P25189 P27573
RefSeq (mRNA) NM_000530 NM_008623
RefSeq (protein) NP_000521 NP_032649
Location (UCSC) Chr 1:
161.27 – 161.28 Mb
Chr 1:
171.15 – 171.16 Mb
PubMed search [1] [2]

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,[1] is a major component of the myelin sheath in peripheral nerves. It comprises a large extracellular N-terminal domain, a single transmembrane (TM) 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,[2] 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.[1]


Myelin protein zero has been shown to interact with peripheral myelin protein 22.[3]

See also[edit]


  1. ^ a b 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. 
  2. ^ 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. 
  3. ^ 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[edit]

  • 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 47877. 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. 

External links[edit]

This article incorporates text from the public domain Pfam and InterPro IPR019566