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  4. Recombinant Human Myelin protein P0 (MPZ), partial

Recombinant Human Myelin protein P0 (MPZ), partial

  • 中文名称：
    人MPZ重组蛋白
  • 货号：
    CSB-YP014774HU
  • 规格：
    ￥1500
  • 图片：
    • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
  • 其他：

产品详情

  • 纯度：
    Greater than 90% as determined by SDS-PAGE.
  • 基因名：
    MPZ
  • Uniprot No.：
  • 别名：
    Charcot Marie Tooth neuropathy 1B; CHM; CMT1; CMT1B; CMT2I; CMT2J; CMT4E; CMTDI3; CMTDID; DSS; HMSNIB; MPP; MPZ; Myelin peripheral protein; Myelin protein P0; Myelin protein zero; MYP0_HUMAN; P0
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 来源：
    Yeast
  • 分子量：
    16.5kDa
  • 表达区域：
    30-156aa
  • 氨基酸序列
    IVVYTDREVHGAVGSRVTLHCSFWSSEWVSDDISFTWRYQPEGGRDAISIFHYAKGQPYIDEVGTFKERIQWVGDPRWKDGSIVIHNLDYSDNGTFTCDVKNPPDIVGKTSQVTLYVFEKVPTRYGV
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    N-terminal 6xHis-tagged
  • 产品提供形式：
    Liquid or Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 缓冲液：
    Tris-based buffer,50% glycerol
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet & COA：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    Is an adhesion molecule necessary for normal myelination in the peripheral nervous system. It mediates adhesion between adjacent myelin wraps and ultimately drives myelin compaction.
  • 基因功能参考文献：
    1. The novel MPZ base-pair substitution in the family is associated with inherited distal demyelinating neuropathy and should be reclassified as pathogenic for Charcot-Marie-Tooth. PMID: 29465609
    2. In this Chinese Han population six novel Charcot-Marie-Tooth disease-associated gene mutations of MPZ (c.440T>C) was discovered. PMID: 27862672
    3. The obtained results depict that the protein with I30T mutation had variable structural conformation and dynamic behavior than native and mutant I30M of MPZ protein. PMID: 26135405
    4. interaction with neurofascins impaired by mutations D6Y, D32G, and H52Y responsible for late onset forms of the human disease PMID: 26406915
    5. Genotype of MPZ mutations and phenotype of Charcot Marie Tooth Disease are correlated. PMID: 26310628
    6. 2 heterozygous missense mutations were identified among 38 Italian CMT2 patients. PMID: 24819634
    7. P0 protein in serum may be an early effective biomarker for peripheral nerve neuropathy PMID: 24762602
    8. As a result of the haplotype analysis, based on ten markers (seven SNPs, two microsatellites and an intronic polyA stretch), the founder effect hypothesis for this allele migration is suggestive. PMID: 25720167
    9. This study demonistrated that The mutation c.419C>G of MPZ exhibited relatively late onset and slowly progressive CMT1 phenotype. PMID: 24028194
    10. This study showed that mutation of MPZ in patient with Charcot-Marie-Tooth disease. PMID: 23743332
    11. this mutation is especially important because it implicates the significance of the immunoglobulin-like structure of MPZ protein PMID: 22633464
    12. MPZ-related neuropathy should be considered in the diagnostic work up of patients with painful axonal neuropathy PMID: 23279346
    13. The p.Arg106Cys allele in MPZ causes late-onset predominantly axonal sensory and motor neuropathy. PMID: 22222859
    14. report of 2 siblings who presented with early onset severe Charcot-Marie-Tooth disease; a novel heterozygous C to T base substitution at neucleotide position 199 (c.199C>T) was identified in exon 2 of MPZ resulting in substitution of arginine for cysteine at codon 67 (p.Arg67Cys) PMID: 23197742
    15. Myelin protein zero is a key structural component of compact myelin, and over 100 mutations in this protein have been reported, which can give rise to neuropathies with either axonal, demyelinating, or other features encompassing a range of severity. PMID: 22704856
    16. Patients with CMT1B caused by Ser63del MPZ have a classical CMT1 phenotype that is much less severe than that of patients with Arg98Cys MPZ PMID: 22734905
    17. Thiss study demonistrated that two affected member of the same family with the same genotype had an 8-base pair deletion, c.160_167delTCCCGGGT in MPZ exon 2. PMID: 22622165
    18. Myelin protein P0 is a major Aire-regulated peripheral nervous system antigen demonstrating defective tolerance to P0 in both Aire-deficient mice and humans. PMID: 22490868
    19. L-MPZ, a novel isoform of myelin P0, is produced by stop codon readthrough. PMID: 22457349
    20. The overall frequency of MPZ mutation was 0.58% in a Greek population of Charcot-Marie-Tooth type 1. PMID: 22243284
    21. The new allelic variants of hereditary motor-sensor neuropathy caused by mutations in the MPZ (P0) gene are described. PMID: 22433810
    22. This study expanded the spectrum of the MPZ mutations and revealed two disparate mechanisms of MPZ mutations associated with a typical Charcot Marie Tooth 1b phenotype PMID: 22018721
    23. The crystal structure of the extracellular domain of human MPZ fused with maltose binding protein PMID: 21971831
    24. MPZ plays an important role in a family with 6 affected members in 3 consecutive generations, presenting with motor and sensory demyelinating polyneuropathy. PMID: 22275255
    25. Charcot-Marie-Tooth disease has been described in a large Norwegian family caused by a copy number variation in myelin protein zero. PMID: 21787890
    26. The identified mutation in MPZ may be the underlying cause of Charcot-Marie-Tooth disease in this family. PMID: 21503568
    27. we present here, for the first time, morphological data obtained in two sural nerve biopsies pointing to a hypomyelination-dysmyelination process in a family harboring the Pro132Leu mutation in the myelin protein zero gene PMID: 21107784
    28. a rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo PMID: 21179557
    29. five patients with four novel MPZ mutations were identified by molecular genetic testing PMID: 20556410
    30. Cells expressing mutant P(0), as compared with those expressing wild-type P(0), demonstrated variable degrees of reduction in the cell adhesiveness PMID: 20461396
    31. two new MPZ mutations causing congenital hypomyelinating neuropathies; c.368_382delGCACGTTCACTTGTG (in-frame deletion of five amino acids) and c.392A>G, Asn131Ser PMID: 20621479
    32. Phenotypes associated with each of the new mutations include severe hereditary motor and sensory neuropathy type III, and mild phenotype CMT1B presented with only decreased or absent reflexes, foot deformities and mild or absent lower limb atrophies PMID: 20456450
    33. A novel frameshift mutation affecting the transmembrane domain (Leu144fs)in a patient with Charcot-Marie-Tooth disease presenting as with late-onset, remitting neurologic symptoms. PMID: 20516806
    34. Charcot-Marie-Tooth disease with intermediate conduction velocities caused by a novel mutation in the MPZ gene. PMID: 20544920
    35. The results of this study concluded that ARG98HIS MPZ mutation may cause hereditary and relatively mild and asymmetric demyelinating sensorimotor polyneuropathy PMID: 20215982
    36. The index patient of this family with unusual Charcot-Marie-Tooth phenotype is found to have a missense mutation within the intracellular domain of myelin protein zero. PMID: 19882637
    37. mutations in MPZ may have a role in Charcot-Marie-Tooth disease type 1B [case report] PMID: 19475438
    38. Here we describe an unusual presentation of the Val102fs mutation characterized by symptoms of spinal root hypertrophy with no overt peroneal muscular atrophy. This report adds new data concerning the clinical presentations of MPZ mutations. PMID: 19906531
    39. novel mutation in vocal cord paralysis PMID: 19950375
    40. Findings suggest that the clinical features associated with MPZ mutations depend partly on the nature of amino acid change. PMID: 19293842
    41. Data show that the CMT1Adup, GJB1, MPZ and PMP22 mutation frequencies were in the range of those described in other CMT patient collectives with different ethnical backgrounds. PMID: 19259128
    42. SSCP analysis for this gene in Croatian patients PMID: 12211648
    43. We suggest that axonal and demyelinating forms of CMT are not two distinct classes, but rather parts of a spectrum of genotypically related conditions, particularly with some MPZ mutations PMID: 12911457
    44. DNA sequencing analysis shows the Asn131Lys mutation in the myelin protein zero gene in three members of an affected family. PMID: 12940837
    45. This study demonstrates that autonomic disturbances may be one of the major clinical signs associated with CMT secondary to MPZ gene mutation in codon 124(thr124met mutation). PMID: 12948789
    46. A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin. PMID: 15036333
    47. Four missense mutations and one 4-base pair (bp) deletion, respectively, were identified in five patients, of which one mutation, c.173 T>A, has never been previously reported PMID: 15050444
    48. MPZ gene screening should be performed for wide phenotype spectrum of Charcot-Marie-Tooth disease. PMID: 15094849
    49. Chronic cough was associated with a Thr124 Met mutation. MPZ must be critical for maintenance of axonal function in addition to its role in myelin. All MPZ mutations associated with tonic pupils affect the same region of the extracellular domain. PMID: 15159512
    50. A novel Thr124Lys mutation in the MPZ gene is associated with congenital neuropathy with hypomyelination. PMID: 15184631

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  • 相关疾病：
    Charcot-Marie-Tooth disease 1B (CMT1B); Charcot-Marie-Tooth disease 2I (CMT2I); Charcot-Marie-Tooth disease 2J (CMT2J); Adie pupil (ADIEP); Charcot-Marie-Tooth disease, dominant, intermediate type, D (CMTDID); Dejerine-Sottas syndrome (DSS); Neuropathy, congenital hypomyelinating or amyelinating (CHN); Roussy-Levy syndrome (ROULS)
  • 亚细胞定位：
    Cell membrane; Single-pass type I membrane protein.; [Isoform L-MPZ]: Myelin membrane; Single-pass type I membrane protein.
  • 蛋白家族：
    Myelin P0 protein family
  • 组织特异性：
    Found only in peripheral nervous system Schwann cells.
  • 数据库链接：

    HGNC: 7225

    OMIM: 103100

    KEGG: hsa:4359

    STRING: 9606.ENSP00000431538

    UniGene: Hs.591486