myelin p0 protein

ミエリンp0タンパク質

関

myelin protein zero

WordNet

1. send a message from one computer to another to check whether it is reachable and active; "ping your machine in the office"
2. a sharp high-pitched resonant sound (as of a sonar echo or a bullet striking metal)
3. contact, usually in order to remind of something; "Ill ping my accountant--April 15 is nearing"
4. hit with a pinging noise; "The bugs pinged the lamp shade"
5. make a short high-pitched sound; "the bullet pinged when they struck the car"
6. any of a large group of nitrogenous organic compounds that are essential constituents of living cells; consist of polymers of amino acids; essential in the diet of animals for growth and for repair of tissues; can be obtained from meat and eggs and milk and legumes; "a diet high in protein"
7. a white fatty substance that forms a medullary sheath around the axis cylinder of some nerve fibers (同)myeline, medulla

PrepTutorEJDIC

1. (小銃弾などの)ピュー(ブーン)という音 / ピュー(ブーン)と音がする
2. 蛋白(たんばく)質

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/01/04 07:26:50」(JST)

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Myelin-PO_C
Identifiers
Symbol	Myelin-PO_C
Pfam	PF10570
InterPro	IPR019566
OPM superfamily	230
OPM protein	3oai
Available protein structures: Pfam structures PDB RCSB PDB; PDBe; PDBj PDBsum structure summary

Myelin protein zero
PDB rendering based on 1neu.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 1N2P, 3OAI
Identifiers
Symbols	MPZ ; CHM; CMT1; CMT1B; CMT2I; CMT2J; CMT4E; CMTDI3; CMTDID; DSS; HMSNIB; MPP; P0
External IDs	OMIM: 159440 MGI: 103177 HomoloGene: 445 GeneCards: MPZ Gene
Gene ontology Molecular function • structural molecule activity Cellular component • lysosome • rough endoplasmic reticulum • plasma membrane • integral component of plasma membrane • basolateral plasma membrane • myelin sheath Biological process • synaptic transmission • negative regulation of apoptotic process • cell-cell junction maintenance Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
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: 161.3 – 161.31 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.

Function

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, 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, 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.

Interactions

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

See also

• myelin

References

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 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

• GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 1
• GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 2
• Myelin protein zero at the US National Library of Medicine Medical Subject Headings (MeSH)

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

UpToDate Contents

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English Journal

• Regulation of Peripheral Nerve Myelin Maintenance by Gene Repression through Polycomb Repressive Complex 2.

• Ma KH1, Hung HA1, Srinivasan R2, Xie H3, Orkin SH3, Svaren J4.
• The Journal of neuroscience : the official journal of the Society for Neuroscience.J Neurosci.2015 Jun 3;35(22):8640-52. doi: 10.1523/JNEUROSCI.2257-14.2015.
• Myelination of peripheral nerves by Schwann cells requires coordinate regulation of gene repression as well as gene activation. Several chromatin remodeling pathways critical for peripheral nerve myelination have been identified, but the functions of histone methylation in the peripheral nerve have
• PMID 26041929

• Sural nerve biopsy and functional studies support the pathogenic role of a novel MPZ mutation.

• Prada V1, Capponi S2, Ursino G1, Alberti A1, Callegari I1, Passalacqua M3, Marotta R4, Mandich P2, Bellone E2, Schenone A1, Grandis M1.
• Neuropathology : official journal of the Japanese Society of Neuropathology.Neuropathology.2015 Jun;35(3):254-9. doi: 10.1111/neup.12179. Epub 2014 Nov 11.
• Our patient is a 65-year-old woman presenting with bilateral pes cavus, pronounced distal muscle wasting, weakness and areflexia. Electrophysiological findings included diffuse unrecordable motor and sensory responses. While the CMT phenotype was evident, the lack of family history and the severe, b
• PMID 25388615

• Impaired dendritic cell function in a spontaneous autoimmune polyneuropathy.

• Quan S1, Kim HJ2, Dukala D1, Sheng JR1, Soliven B3.
• Journal of immunology (Baltimore, Md. : 1950).J Immunol.2015 May 1;194(9):4175-84. doi: 10.4049/jimmunol.1401766. Epub 2015 Mar 30.
• Spontaneous autoimmune polyneuropathy (SAP) in B7-2 knockout NOD mice mimics the progressive form of chronic inflammatory demyelinating polyradiculoneuropathy, and is mediated by myelin protein zero (P0)-reactive Th1 cells. In this study, we focused on the effect of B7-2 deletion on the function of
• PMID 25825437

Japanese Journal

• Dysfunction of fibroblasts of extrarenal origin underlies renal fibrosis and renal anemia in mice

• Journal of Clinical Investigation, 3981-90, 2011-09-12
• NAID 120003338854

• 疾患モデルマウスからの培養シュワン細胞株の樹立

• 日本生理学会大会発表要旨集 2008(0), 037-037, 2008
• NAID 130005449392

• Tissue culture methods to study neurological disorders : Establishment of immortalized Schwann cells from murine disease models

• Neuropathology : official journal the Japanese Society of Neuropathology 23(1), 68-78, 2003-03-01
• NAID 50000792250

Related Links

• Myelin protein zero - Wikipedia, the free encyclopedia

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 ...

• Myelin P0 protein (IPR000920)

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 [PubMed: ...

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リンク元	「ミエリンp0タンパク質」「myelin protein zero」
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「ミエリンp0タンパク質」

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英

myelin p0 protein

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ミエリンタンパク質ゼロ

「myelin protein zero」

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ミエリンタンパク質ゼロ

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myelin p0 protein

「myel」

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• comb form

• 髄、脊髄、骨髄の意味

• ex.

• myeloncephalon 髄脳

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10の-12乗

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pico