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MAGEL2 Antibody

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  • 中文名称：
    MAGEL2兔多克隆抗体
  • 货号：
    CSB-PA013771
  • 规格：
    ￥1100
  • 图片：
    • Gel: 6%SDS-PAGE, Lysate: 40 μg, Lane: Raji cells, Primary antibody: CSB-PA013771(MAGEL2 Antibody) at dilution 1/250, Secondary antibody: Goat anti rabbit IgG at 1/8000 dilution, Exposure time: 5 minutes
  • 其他：

产品详情

  • Uniprot No.：
    Q9UJ55
  • 基因名：
    MAGEL2
  • 别名：
    MAGEL2 antibody; NDNL1 antibody; MAGE-like protein 2 antibody; Necdin-like protein 1 antibody; Protein nM15 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Synthetic peptide of Human MAGEL2
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen affinity purification
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    -20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB
  • 推荐稀释比：
    Application Recommended Dilution
    ELISA 1:1000-1:2000
    WB 1:200-1:1000
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    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.

产品评价

靶点详情

  • 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.
  • 基因功能参考文献：
    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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  • 相关疾病：
    Schaaf-Yang syndrome (SHFYNG)
  • 亚细胞定位：
    Early endosome. Cytoplasm. Nucleus.
  • 组织特异性：
    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.
  • 数据库链接：

    HGNC: 6814

    OMIM: 605283

    KEGG: hsa:54551

    STRING: 9606.ENSP00000433433

    UniGene: Hs.141496