Myelin protein zero

Myelin protein zero
PDB rendering based on 1neu.
Available structures PDB 1neu
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 • 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	Q542C9
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]^[1]

Interactions

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

See also

• myelin

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. PMC 47877. PMID 7504284. http://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
• MeSH Myelin+protein+zero