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Myelin protein zero (Charcot-Marie-Tooth neuropathy 1B)

PDB rendering based on 1neu.
Available structures
1neu
Identifiers
Symbols MPZ; DSS; CHM; CMT4E; CMT1; CMT1B; CMT2I; CMT2J; CMTDI3; HMSNIB; MPP; P0
External IDs OMIM159440 MGI103177 HomoloGene445 GeneCards: MPZ Gene
RNA expression pattern
PBB GE MPZ 210280 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 4359 17528
Ensembl ENSG00000158887 ENSMUSG00000056569
UniProt P25189 Q542C9
RefSeq (mRNA) NM_000530 NM_008623
RefSeq (protein) NP_000521 NP_032649
Location (UCSC) Chr 1:
159.54 - 159.55 Mb
Chr 1:
172.99 - 173 Mb
PubMed search [1] [2]

Myelin protein zero is a glycoprotein associated with Charcot-Marie-Tooth disease.

Myelin protein-zero is the major structural protein of peripheral myelin.[supplied by OMIM][1]

Contents

Interactions

Myelin protein zero has been shown to interact with Peripheral myelin protein 22.[2]

See also

References

  1. ^ "Entrez Gene: MPZ myelin protein zero (Charcot-Marie-Tooth neuropathy 1B)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4359.  
  2. ^ 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". J. Neurosci. (UNITED STATES) 19 (9): 3396–403. ISSN 0270-6474. 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. 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. 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 ( Pt 1): 121–48. PMID 3467805.  
  • Tachi N, Ishikawa Y, Minami R (1985). "Two cases of congenital hypomyelination neuropathy.". Brain Dev. 6 (6): 560–5. 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. 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. 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. 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. 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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