Myelin protein zero

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 PDBsum structure summary

Myelin protein zero
PDB rendering based on 1neu.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 3OAI
Identifiers
Symbols	MPZ; CHM; CMT1; CMT1B; CMT2I; CMT2J; CMT4E; CMTDI3; DSS; HMSNIB; MPP; P0
External IDs	OMIM: 159440 MGI: 103177 HomoloGene: 445 GeneCards: MPZ Gene
Gene Ontology Molecular function • structural molecule activity Cellular component • plasma membrane • integral to plasma membrane Biological process • synaptic transmission 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_000530.6	NM_008623.4
RefSeq (protein)	NP_000521.2	NP_032649.2
Location (UCSC)	Chr 1: 161.27 – 161.28 Mb	Chr 1: 173.08 – 173.09 Mb
PubMed search	[1]	[2]

Myelin protein zero (P0) is a glycoprotein associated with Charcot-Marie-Tooth disease and Dejerine-Sottas disease.

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

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 (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, 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

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 (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. PMC 47877. PMID 7504284. //www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=47877. 
• 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. 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