Your Good Partner in Biology Research

  1. Home
  2. 抗体
  3. 多克隆抗体
  4. DYM Antibody

DYM Antibody

  • 货号：
    CSB-PA007291GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q7RTS9
  • 基因名：
    DYM
  • 别名：
    DYMDymeclin antibody; Dyggve-Melchior-Clausen syndrome protein antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human DYM
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity Purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB
  • 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：
    Necessary for correct organization of Golgi apparatus. Involved in bone development.
  • 基因功能参考文献：
    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

    显示更多

    收起更多

  • 相关疾病：
    Dyggve-Melchior-Clausen syndrome (DMC); Smith-McCort dysplasia 1 (SMC1)
  • 亚细胞定位：
    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
  • 组织特异性：
    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.
  • 数据库链接：

    HGNC: 21317

    OMIM: 223800

    KEGG: hsa:54808

    STRING: 9606.ENSP00000269445

    UniGene: Hs.162996