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  4. Recombinant Human MAGE-like protein 2 (MAGEL2), partial

Recombinant Human MAGE-like protein 2 (MAGEL2), partial

  • 中文名稱：
    人MAGEL2重組蛋白
  • 貨號：
    CSB-YP883455HU
  • 規(guī)格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人MAGEL2重組蛋白
  • 貨號：
    CSB-EP883455HU
  • 規(guī)格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    人MAGEL2重組蛋白
  • 貨號：
    CSB-EP883455HU-B
  • 規(guī)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：
    人MAGEL2重組蛋白
  • 貨號：
    CSB-BP883455HU
  • 規(guī)格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人MAGEL2重組蛋白
  • 貨號：
    CSB-MP883455HU
  • 規(guī)格：
  • 來源：
    Mammalian cell
  • 其他：

產(chǎn)品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    MAGEL2
  • Uniprot No.：
  • 別名：
    MAGEL2; NDNL1; MAGE-like protein 2; Necdin-like protein 1; Protein nM15
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Partial
  • 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(chǎn)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(zhì)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(chǎn)品評價

靶點詳情

  • 功能：
    Probably enhances ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases, possibly through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. Acts as a regulator of retrograde transport via its interaction with VPS35. Recruited to retromer-containing endosomes and promotes the formation of 'Lys-63'-linked polyubiquitin chains at 'Lys-220' of WASHC1 together with TRIM27, leading to promote endosomal F-actin assembly. Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer. Significantly promotes the cytoplasmic accumulation of CLOCK.
  • 基因功能參考文獻：
    1. the single-nucleotide polymorphism rs850807, which is putatively functional and linked with MAGEL2 and NDN Genetic variation in rs850807 was strongly and exclusively associated with the ideas of reference subscale of the schizophrenia spectrum, which is best typified as paranoia PMID: 29343559
    2. Genes encoding MAGEL2 partners, either in the retrograde transport or in the ubiquitination-deubiquitination complexes, are promising candidates as Opitz trigonocephaly C syndrome -causing genes. PMID: 28281571
    3. We report on first two unrelated patients of Polish descent with Schaaf-Yang syndrome caused by de-novo intragenic mutations in the MAGEL2 gene, identified by next-generation sequencing PMID: 29389715
    4. This study provides strong evidence for the pathogenicity of truncating mutations of the paternal allele of MAGEL2, refines the associated clinical phenotypes, and highlights implications for genetic counseling for affected families PMID: 27195816
    5. A similar progressive loss of leptin sensitivity caused by loss of MAGEL2 in children with Prader-Willi syndrome could explain the delayed onset of increased appetite and weight gain in this complex disorder. PMID: 25926624
    6. Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis. PMID: 26365340
    7. MAGEL2 is a new gene causing complex autism spectrum disorder and MAGEL2 loss of function can contribute to several aspects of the Prader-Willi syndrome phenotype. PMID: 24076603
    8. These findings provide a cellular and molecular function for MAGE-L2-TRIM27 in retrograde transport, including an unappreciated role of K63-linked ubiquitination and identification of an activating signal of the WASH regulatory complex. PMID: 23452853
    9. Results suggest that MAGEL2 may not play a role in the pathophysiology of schizophrenia and mood disorders in the Japanese population. PMID: 20467835
    10. MAGEL2 gene is imprinted, with preferential expression from the paternal allele. PMID: 10556298

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  • 相關(guān)疾病：
    Schaaf-Yang syndrome (SHFYNG)
  • 亞細胞定位：
    Early endosome. Cytoplasm. Nucleus.
  • 組織特異性：
    Expressed in placenta, fetal and adult brain. Not detected in heart and small intestine, very low levels in fibroblasts. Not expressed in brain of a Prader-Willi patient.
  • 數(shù)據(jù)庫鏈接：

    HGNC: 6814

    OMIM: 605283

    KEGG: hsa:54551

    STRING: 9606.ENSP00000433433

    UniGene: Hs.141496