Myelin protein zero

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Myelin protein zero (Charcot-Marie-Tooth neuropathy 1B)
PDB rendering based on 1neu.
Available structures: 1neu
Identifiers
Symbol(s) MPZ; DSS; CHM; CMT4E; CMT1; CMT1B; CMT2I; CMT2J; CMTDI3; HMSNIB; MPP; P0
External IDs OMIM: 159440 MGI: 103177 HomoloGene: 445
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 4359 17528
Ensembl ENSG00000158887 ENSMUSG00000056569
Uniprot P25189 Q542C9
Refseq NM_000530 (mRNA)
NP_000521 (protein)		 NM_008623 (mRNA)
NP_032649 (protein)
Location 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

[edit] See also

[edit] References

  1. ^ Entrez Gene: MPZ myelin protein zero (Charcot-Marie-Tooth neuropathy 1B).

[edit] 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. 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. 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. 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. 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. 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. 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. 

[edit] External links

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v • d • e
Protein: glycoproteins
v • d • e
Membrane proteins: cell adhesion molecules
IgSF
N-CAM (Myelin protein zero) - ICAM (1, 4) - VCAM-1 - PE-CAM - L1-CAM
Cadherins
Selectins
Integrins
LFA-1 - Integrin alphaXbeta2 - Macrophage-1 antigen - VLA-4 - Glycoprotein IIb/IIIa (Note: integrins not always classified as CAMs)
Other