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  4. Recombinant Human Charged multivesicular body protein 2b (CHMP2B)

Recombinant Human Charged multivesicular body protein 2b (CHMP2B)

  • 中文名稱：
    Recombinant Human Charged multivesicular body protein 2b(CHMP2B)
  • 貨號：
    CSB-YP891990HU
  • 規格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    Recombinant Human Charged multivesicular body protein 2b(CHMP2B)
  • 貨號：
    CSB-EP891990HU-B
  • 規格：
  • 來源：
    E.coli
  • 共軛：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 中文名稱：
    Recombinant Human Charged multivesicular body protein 2b(CHMP2B)
  • 貨號：
    CSB-BP891990HU
  • 規格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    Recombinant Human Charged multivesicular body protein 2b(CHMP2B)
  • 貨號：
    CSB-MP891990HU
  • 規格：
  • 來源：
    Mammalian cell
  • 其他：

產品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
  • Uniprot No.：
  • 別名：
    ALS17; Charged multivesicular body protein 2b; CHM2B_HUMAN; CHMP family; member 2B; CHMP2.5; CHMP2b; Chromatin modifying protein 2b; Chromatin-modifying protein 2b; DMT1; hVps2-2; Vacuolar protein sorting 2; yeast; homolog of; B; Vacuolar protein sorting 2-2; Vacuolar protein sorting-associated protein 2-2; VPS2 homolog B; Vps2-2; VPS2B
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Full Length of Mature Protein
  • 表達區域：
    2-213
  • 氨基酸序列
    ASLFKKKTV DDVIKEQNRE LRGTQRAIIR DRAALEKQEK QLELEIKKMA KIGNKEACKV LAKQLVHLRK QKTRTFAVSS KVTSMSTQTK VMNSQMKMAG AMSTTAKTMQ AVNKKMDPQK TLQTMQNFQK ENMKMEMTEE MINDTLDDIF DGSDDEEESQ DIVNQVLDEI GIEISGKMAK APSAARSLPS ASTSKATISD EEIERQLKAL GVD
  • 蛋白標簽：
    Tag?type?will?be?determined?during?the?manufacturing?process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 產品提供形式：
    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.
  • 復溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 儲存條件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質期：
    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.
  • 貨期：
    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.
  • 注意事項：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

產品評價

靶點詳情

  • 功能：
    Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4.
  • 基因功能參考文獻：
    1. We directly link TDP-43 loss of function toxicity to two genes with rare amyotrophic lateral sclerosis and frontotemporal lobar degeneration-causing mutations, CHMP2B and ErbB4 PMID: 27621269
    2. these data indicate that the neuronal expression of human CHMP2B(intron5) in areas involved in motor and cognitive functions induces progressive motor alterations associated with dementia symptoms and with histopathological hallmarks reminiscent of both amyotrophic lateral sclerosis and frontotemporal dementia. PMID: 27329763
    3. Endogenous TMEM106B was partly sequestered in CHMP2B-positive structures. SNP T185 was more associated with CHMP2B than SNP S185, and it enhanced neurotoxicity caused by CHMP2B(Intron5) compared to S185-expressing cells. PMID: 26651479
    4. Study showed that mutant CHMP2B causes the pathological accumulation of endolysosomal components early in the frontotemporal dementia disease course PMID: 26358247
    5. Protein kinase CK2 alpha is involved in the phosphorylation of the ESCRT-III subunits CHMP3 and CHMP2B, as well as of VPS4B/SKD1, an ATPase that mediates ESCRT-III disassembly. PMID: 24440309
    6. Data indicate that knockdown of syntaxin 13 (syx13) further increased the cellular toxicity caused by muaant CHMP2B (CHMP2BIntron5) expression. PMID: 24095276
    7. CHMP2B immunoreactivity was increased in the dorsal motor nucleus of the vagus nerve in Parkinson's disease and incidental Lewy body disease brains PMID: 22989140
    8. These findings suggest that endosomal and autophagic pathway is associated with degradation or formation of alpha-synuclein aggregates in alpha-synucleinopathy. PMID: 22947304
    9. Subjects with CHMP2B mutation show cognitive changes dominated by executive dysfunctions, years before they fulfil diagnostic criteria of FTD. PMID: 23142962
    10. Direct link between disease-causing mutations and the cellular phenotype in cells originating from CHMP2B mutation patients with frontotemporal dementia. PMID: 22786763
    11. This study provided a better understanding of the cellular pathogenesis of neurodegenerative diseases associated with various missense mutations of CHMP2B as well as endocytic defects. PMID: 22521643
    12. CHMP2B polymerization scaffolds membranes in vivo represents a first step toward demonstrating its structural role during outward membrane deformation PMID: 21926173
    13. recent advances in our understanding of the molecular basis of CHMP2B mutations indicate that the mechanisms involved may be broadly relevant to neurodegenerative processes.[review] PMID: 21222599
    14. A novel heterozygous variant p.Ser194Leu (c.581C>T) is found in exon 6 of the CHMP2B gene in one male patient with pure frontotemporal lobar degeneration. PMID: 20625756
    15. The results of this study confirmed that mutations in CHMP2B are not a common cause of frontotemporal lobar degeneration. PMID: 20412296
    16. CHMP2B is required for spine growth. Taken together, these results demonstrate that a mutant ESCRT-III subunit linked to a human neurodegenerative disease can disrupt the normal pattern of spine development. PMID: 20699355
    17. analysis of CHMP2B mutations in lower motor neuron predominant amyotrophic lateral sclerosis PMID: 20352044
    18. The fusion of endosomes with lysosomes is required for neuronal function suggesting a pathogenic mechanism for frontotemporal dementia caused by CHMP2B mutations. PMID: 20223751
    19. CHMP2B can be used as a reliable marker for GVD in neurons of the AD hippocampus. PMID: 20420883
    20. there were no significant differences in the frequencies of the IVS4 + 44C/A, 1303C/A, 1254T/C and IVS15Ex16-16C/G polymorphism haplotypes in the patient cohorts (regardless of the degree of hepatic iron deposition) compared to the control cohort PMID: 15223008
    21. identify a mutation in CHMP2B, encoding a component of the endosomal ESCRTIII complex, and show that it results in aberrant mRNA splicing in tissue samples from affected members of family with autosomal dominant frontotermporal dementia PMID: 16041373
    22. Mutations in CHMP2B are a rare cause of familial FTLD and may be specific to the Danish pedigree. PMID: 16431024
    23. This studyidentified mutations (Q206H; I29V) in two patients with non-SOD1 ALS. PMID: 16807408
    24. CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia. PMID: 16941655
    25. CHMP2B can be excluded as a susceptibility gene conferring risk to sporadic forms of frontotemporal dementia. PMID: 16979267
    26. These data suggest that C-truncating mutations in CHMP2B might underlie the pathogenic mechanism in frontotemporal lobar degeneration. PMID: 17956895
    27. data indicates that CHMP2B mutations are a rare cause of ALS, and no mutations were found in classic ALS phenotypes. PMID: 18270236
    28. These data suggest that SgIII, DMT-1 and HNP-1 are implicated in cell-mediated LDL oxidation. PMID: 19150442
    29. The specificity of DMT1 inhibition by 4 molecules in a cell line is reported. PMID: 19179627
    30. finding suggests that mutations in CHMP2B have widespread effects throughout the brain, leading to a neuro-anatomical signature distinct from other diseases in the frontotemporal lobar degeneration spectrum PMID: 19202337
    31. Divalent metal transporter 1 (DMT1) regulation by Ndfip1 prevents metal toxicity in human neurons. PMID: 19706893

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  • 相關疾病：
    Frontotemporal dementia, chromosome 3-linked (FTD3); Amyotrophic lateral sclerosis 17 (ALS17)
  • 亞細胞定位：
    Cytoplasm, cytosol. Late endosome membrane; Peripheral membrane protein.
  • 蛋白家族：
    SNF7 family
  • 組織特異性：
    Widely expressed. Expressed in brain, heart, skeletal muscle, spleen, kidney, liver, small intestine, pancreas, lung, placenta and leukocytes. In brain, it is expressed in cerebellum, cerebral cortex, medulla, spinal chord, occipital lobe, frontal lobe, t
  • 數據庫鏈接：

    HGNC: 24537

    OMIM: 600795

    KEGG: hsa:25978

    STRING: 9606.ENSP00000263780

    UniGene: Hs.476930



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