Protein Zero, Myelin (MPZ)
[Edit]P0; DSS; CHM; CMT4E; CMT1; CMT1B; CMT2I; CMT2J; CMTDI3; HMSNIB; MPP; Myelin Protein Zero; Charcot-Marie-Tooth Neuropathy 1B; Myelin peripheral protein
Myelin protein-zero is the major structural protein of peripheral myelin.Hayasaka et al. (1993) stated that the MPZ gene contains 6 exons.You et al. (1991) found that the Mpz gene in the mouse, like that in the rat, contains 6 exons that span about 7 kb of genomic DNA.Myelin protein-zero is the major structural protein of peripheral myelin, accounting for more than 50% of the protein present in the sheath of peripheral nerves. Expression of the MPZ gene is restricted to Schwann cells; MPZ is not found in the CNS. An integral membrane glycoprotein of 28 kD, MPZ is thought to link adjacent lamellae and thereby stabilize the myelin assembly. The other 3 major components of myelin are myelin basic protein (MBP), myelin proteolipid protein (PLP1), and myelin-associated glycoprotein (MAG).
Organism species: Homo sapiens (Human)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | RPA999Hu01 | Recombinant Protein Zero, Myelin (MPZ) | Positive Control; Immunogen; SDS-PAGE; WB. |
Antibodies | PAA999Hu01 | Polyclonal Antibody to Protein Zero, Myelin (MPZ) | WB; IHC; ICC; IP. |
MAA999Hu21 | Monoclonal Antibody to Protein Zero, Myelin (MPZ) | WB | |
MAA999Hu22 | Monoclonal Antibody to Protein Zero, Myelin (MPZ) | WB | |
Assay Kits | SEA999Hu | ELISA Kit for Protein Zero, Myelin (MPZ) | Enzyme-linked immunosorbent assay for Antigen Detection. |
Organism species: Mus musculus (Mouse)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | n/a | Recombinant Protein Zero, Myelin (MPZ) | Recombinant Protein Customized Service Offer |
Antibodies | n/a | Monoclonal Antibody to Protein Zero, Myelin (MPZ) | Monoclonal Antibody Customized Service Offer |
n/a | Polyclonal Antibody to Protein Zero, Myelin (MPZ) | Polyclonal Antibody Customized Service Offer | |
Assay Kits | n/a | CLIA Kit for Protein Zero, Myelin (MPZ) | CLIA Kit Customized Service Offer |
n/a | ELISA Kit for Protein Zero, Myelin (MPZ) | ELISA Kit Customized Service Offer |
Organism species: Rattus norvegicus (Rat)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | RPA999Ra01 | Recombinant Protein Zero, Myelin (MPZ) | Positive Control; Immunogen; SDS-PAGE; WB. |
RPA999Ra02 | Recombinant Protein Zero, Myelin (MPZ) | Positive Control; Immunogen; SDS-PAGE; WB. | |
Antibodies | PAA999Ra01 | Polyclonal Antibody to Protein Zero, Myelin (MPZ) | WB; IHC; ICC; IP. |
MAA999Ra21 | Monoclonal Antibody to Protein Zero, Myelin (MPZ) | WB; IHC; ICC; IP. | |
Assay Kits | SEA999Ra | ELISA Kit for Protein Zero, Myelin (MPZ) | Enzyme-linked immunosorbent assay for Antigen Detection. |
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- "Novel mutation of the myelin Po gene in a pedigree with Charcot-Marie-Tooth disease type 1B."Am. J. Med. Genet. 71:246-248(1997) [PubMed] [Europe PMC] [Abstract]
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- "Novel mutation of the myelin P0 gene in a CMT1B family."Hum. Mutat. 9:74-77(1997) [PubMed] [Europe PMC] [Abstract]
- "Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case."Hum. Mutat. 10:21-24(1997) [PubMed] [Europe PMC] [Abstract]
- "De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III): two amino acid insertion after Asp 118."Hum. Mutat. Suppl. 1:S103-S105(1998) [PubMed] [Europe PMC] [Abstract]
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- "The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype."Brain 122:281-290(1999) [PubMed] [Europe PMC] [Abstract]
- "Novel mutations of the myelin P0 gene in two Charcot-Marie-Tooth type 1 patients from Turkey."Eur. J. Hum. Genet. Suppl. 7:116-116(1999)
- "Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene."J. Neurol. Neurosurg. Psych. 66:779-782(1999) [PubMed] [Europe PMC] [Abstract]
- "Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy."J. Neurol. Neurosurg. Psych. 67:174-179(1999) [PubMed] [Europe PMC] [Abstract]
- "A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheaths."Neurology 52:1271-1275(1999) [PubMed] [Europe PMC] [Abstract]
- "Peripheral myelin modification in CMT1B correlates with MPZ gene mutations."Neuromuscul. Disord. 9:361-367(1999) [PubMed] [Europe PMC] [Abstract]
- "Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero."Acta Neuropathol. 100:299-304(2000) [PubMed] [Europe PMC] [Abstract]
- "Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible 'hotspot' on Thr124Met."Brain Pathol. 10:235-248(2000) [PubMed] [Europe PMC] [Abstract]
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- "Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease."Hum. Mutat. 16:177-178(2000) [PubMed] [Europe PMC] [Abstract]
- "An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val)."J. Neurol. Neurosurg. Psych. 69:806-811(2000) [PubMed] [Europe PMC] [Abstract]
- "Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: mutation analysis in a large cohort of Italian families."Hum. Mutat. 18:32-41(2001) [PubMed] [Europe PMC] [Abstract]
- "Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity."J. Neurol. 248:410-415(2001) [PubMed] [Europe PMC] [Abstract]
- "The range of chronic demyelinating neuropathy of infancy: a clinico-pathological and genetic study of 15 unrelated cases."J. Neurol. 248:795-803(2001) [PubMed] [Europe PMC] [Abstract]
- "A somatic and germline mosaic mutation in MPZ/P(0) mimics recessive inheritance of CMT1B."Neurology 57:101-105(2001) [PubMed] [Europe PMC] [Abstract]
- "Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation."Ann. Neurol. 51:190-201(2002) [PubMed] [Europe PMC] [Abstract]
- "Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations."Hum. Mutat. 20:392-398(2002) [PubMed] [Europe PMC] [Abstract]
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- "Two amino-acid substitutions in the myelin protein zero gene of a case of Charcot-Marie-Tooth disease associated with light-near dissociation."Neuromuscul. Disord. 12:281-285(2002) [PubMed] [Europe PMC] [Abstract]
- "Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes."Neuromuscul. Disord. 12:643-650(2002) [PubMed] [Europe PMC] [Abstract]
- "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 126:134-151(2003) [PubMed] [Europe PMC] [Abstract]
- "Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1."Hum. Mutat. 21:100-100(2003) [PubMed] [Europe PMC] [Abstract]
- "Clinical and genetic analysis of CMT1B in a Nigerian family."Muscle Nerve 27:628-630(2003) [PubMed] [Europe PMC] [Abstract]
- "Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family."Neurogenetics 4:191-197(2003) [PubMed] [Europe PMC] [Abstract]
- "Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene."Neurology 61:1435-1437(2003) [PubMed] [Europe PMC] [Abstract]
- "Phenotypic clustering in MPZ mutations."Brain 127:371-384(2004) [PubMed] [Europe PMC] [Abstract]
- "An axonal form of Charcot-Marie-Tooth disease with a novel missense mutation in the myelin protein zero gene."J. Peripher. Nerv. Syst. 9:1-2(2004) [PubMed] [Europe PMC] [Abstract]
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- "A novel MPZ gene mutation in congenital neuropathy with hypomyelination."Neurology 62:2122-2123(2004) [PubMed] [Europe PMC] [Abstract]
- "Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation."Neurology 63:733-735(2004) [PubMed] [Europe PMC] [Abstract]
- "Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B."Neuromuscul. Disord. 16:183-187(2006) [PubMed] [Europe PMC] [Abstract]
- "Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations."Hum. Mol. Genet. 17:1877-1889(2008) [PubMed] [Europe PMC] [Abstract]
- "Chronic cough due to Thr124Met mutation in the peripheral myelin protein zero (MPZ gene)."Neurology 62:1905-1906(2004) [PubMed] [Europe PMC] [Abstract]
- "A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin."Neuromuscul. Disord. 14:229-232(2004) [PubMed] [Europe PMC] [Abstract]
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