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MAGEL2 Antibody

  • 中文名稱：
    MAGEL2兔多克隆抗體
  • 貨號：
    CSB-PA277591
  • 規格：
    ￥1100
  • 圖片：
    • The image on the left is immunohistochemistry of paraffin-embedded Human brain tissue using CSB-PA277591(MAGEL2 Antibody) at dilution 1/40, on the right is treated with synthetic peptide. (Original magnification: ×200)
  • 其他：

產品詳情

  • Uniprot No.：
  • 基因名：
    MAGEL2
  • 別名：
    MAGEL2 antibody; NDNL1 antibody; MAGE-like protein 2 antibody; Necdin-like protein 1 antibody; Protein nM15 antibody
  • 宿主：
    Rabbit
  • 反應種屬：
    Human
  • 免疫原：
    Synthetic peptide of Human MAGEL2
  • 免疫原種屬：
    Homo sapiens (Human)
  • 標記方式：
    Non-conjugated
  • 抗體亞型：
    IgG
  • 純化方式：
    Antigen affinity purification
  • 濃度：
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液：
    -20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol
  • 產品提供形式：
    Liquid
  • 應用范圍：
    ELISA,IHC
  • 推薦稀釋比：
    Application Recommended Dilution
    ELISA 1:2000-1:5000
    IHC 1:50-1:200
  • Protocols：
  • 儲存條件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 貨期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
  • 用途：
    For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

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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  • 相關疾?。?/div>
    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.
  • 數據庫鏈接：

    HGNC: 6814

    OMIM: 605283

    KEGG: hsa:54551

    STRING: 9606.ENSP00000433433

    UniGene: Hs.141496



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