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  4. DYM Antibody

DYM Antibody

  • 中文名稱：
    DYM兔多克隆抗體
  • 貨號(hào)：
    CSB-PA007291GA01HU
  • 規(guī)格：
    ￥3,900
  • 其他：

產(chǎn)品詳情

  • Uniprot No.：
  • 基因名：
    DYM
  • 別名：
    DYMDymeclin antibody; Dyggve-Melchior-Clausen syndrome protein antibody
  • 宿主：
    Rabbit
  • 反應(yīng)種屬：
    Human,Mouse,Rat
  • 免疫原：
    Human DYM
  • 免疫原種屬：
    Homo sapiens (Human)
  • 抗體亞型：
    IgG
  • 純化方式：
    Antigen Affinity Purified
  • 濃度：
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液：
    PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 產(chǎn)品提供形式：
    Liquid
  • 應(yīng)用范圍：
    ELISA,WB
  • Protocols：
  • 儲(chǔ)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(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

  • 功能：
    Necessary for correct organization of Golgi apparatus. Involved in bone development.
  • 基因功能參考文獻(xiàn)：
    1. Dymeclin is crucial for proper myelination and anterograde neuronal trafficking, two processes that are highly active during postnatal brain maturation. PMID: 25652408
    2. The clinical diagnosis was confirmed with molecular analysis of DYM with a known mutation at c.580C>T (p.R194X). PMID: 24300288
    3. A novel homozygous splice-site mutation (IVS15+3G>T)of dymeclin gene in the 18q12-12.1 chromosomal region was detected in Dyggve-Melchior-Clausen syndrome. PMID: 20865280
    4. Data reveal Dymeclin driven processes central to bone development pathways, including Golgi organization, Golgi-coupled protein secretion, and collagen deposition in the extracellular matrix. PMID: 21280149
    5. dymeclin gene has a role in Golgi function and vesicular transport in the presynapse in schizophrenia in the Japanese population PMID: 20555340
    6. Gene mutations in a novel, evolutionarily conserved gene are identified in both rare autosomal recessive osteochondrodysplasias (DMC and SMC). PMID: 12491225
    7. Mutations cause Dyggve-Melchior-Clausen syndrome. Normal function may be in process of intracellular digestion of proteins. PMID: 12554689
    8. DYM mutations associated with Dyggve-Melchior-Clausen dysplasia result in mis-localization of Dymeclin. PMID: 18996921

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  • 相關(guān)疾病：
    Dyggve-Melchior-Clausen syndrome (DMC); Smith-McCort dysplasia 1 (SMC1)
  • 亞細(xì)胞定位：
    Cytoplasm. Golgi apparatus. Membrane; Lipid-anchor. Note=Sequence analysis programs clearly predict 1 transmembrane region. However, PubMed:18996921 shows that it is not a stably anchored transmembrane protein but it weakly associates with the Golgi apparatus and shuttles between the Golgi and the cytosol.
  • 蛋白家族：
    Dymeclin family
  • 組織特異性：
    Expressed in most embryo-fetal and adult tissues. Abundant in primary chondrocytes, osteoblasts, cerebellum, kidney, lung, stomach, heart, pancreas and fetal brain. Very low or no expression in the spleen, thymus, esophagus, bladder and thyroid gland.
  • 數(shù)據(jù)庫(kù)鏈接：

    HGNC: 21317

    OMIM: 223800

    KEGG: hsa:54808

    STRING: 9606.ENSP00000269445

    UniGene: Hs.162996



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