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  4. MED13L Antibody

MED13L Antibody

  • 货号：
    CSB-PA008362
  • 规格：
    ￥880
  • 其他：

产品详情

  • Uniprot No.：
    Q71F56
  • 基因名：
    MED13L
  • 别名：
    MD13L_HUMAN antibody; MED13L antibody; Mediator complex subunit 13 like antibody; Mediator complex subunit 13-like antibody; Mediator of RNA polymerase II transcription subunit 13-like antibody; THRAP2 antibody; Thyroid hormone receptor-associated protein 2 antibody; Thyroid hormone receptor-associated protein complex 240 kDa component-like antibody; TRAP240L antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse
  • 免疫原：
    Synthesized peptide derived from the Internal region of Human TRAP240.
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 抗体亚型：
    IgG
  • 纯化方式：
    The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
  • 产品提供形式：
    Liquid
  • 应用范围：
    WB, IHC, ELISA
  • 推荐稀释比：
    Application Recommended Dilution
    WB 1:500-1:2000
    IHC 1:100-1:300
    ELISA 1:10000
  • 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：
    Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. This subunit may specifically regulate transcription of targets of the Wnt signaling pathway and SHH signaling pathway.
  • 基因功能参考文献：
    1. Our findings suggest that MED13L-related disorders are a possible differential diagnosis for syndromic PRS. PMID: 29159987
    2. MED13L truncating mutation and missense mutation were identified in two patients with facial resemblance to Kleefstra syndrome as a novel differential diagnosis. PMID: 28645799
    3. A new syndrome caused by MED13L deleterious variants has been described, which shows similar clinical manifestations including intellectual disability, hypotonia, and other congenital anomalies. In two new cases, one missense variant and one nonsense mutation were found in the MED13L gene. PMID: 27500536
    4. Two siblings exhibited an intragenic deletion involving exons 3-14, which led to an in-frame deletion in MED13L. The deletion was inherited from their carrier mother who possessed low frequency mosaicism. The older sister of the siblings showed craniosynostosis; this condition has never been reported in patients with MED13L haploinsufficiency syndrome PMID: 28371282
    5. Heterozygous MED13L variants cause transposition of the great arterie. PMID: 25758992
    6. Analysis of genomic data in connection with deep clinical evaluation of patients could elucidate genetic heterogeneity of the MED13L haploinsufficiency phenotype PMID: 25712080
    7. A meta-analysis of genome-wide association studies of blood pressure and hypertension in Chinese identified three new loci (CACNA1D, CYP21A2, and MED13L) and a newly discovered variant near SLC4A7. PMID: 25249183
    8. Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency. PMID: 25137640
    9. Description of three patients with copy number changes affecting MED13L and delineation of a recognizable MED13L haploinsufficiency syndrome. PMID: 23403903
    10. We show that the Mediator complex subunit MED13L is required for Rb/E2F control of cell growth, the complete repression of cell cycle target genes, and cell cycle inhibition. PMID: 22249253
    11. PROSIT240 shows significant homology to the nuclear receptor coactivator TRAP240, suggesting it to be a new component of the thyroid hormone receptor-associated protein (TRAP) complex. PROSIT240 is involved in early heart and brain development. PMID: 14638541
    12. Transcripts were most abundant in skeletal muscle. PMID: 15145061

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  • 相关疾病：
    Transposition of the great arteries dextro-looped 1 (DTGA1); Mental retardation and distinctive facial features with or without cardiac defects (MRFACD)
  • 亚细胞定位：
    Nucleus.
  • 蛋白家族：
    Mediator complex subunit 13 family
  • 组织特异性：
    Highly expressed in brain (cerebellum), heart (aorta), skeletal muscle, kidney, placenta and peripheral blood leukocytes. Highly expressed in fetal brain.
  • 数据库链接：

    HGNC: 22962

    OMIM: 608771

    KEGG: hsa:23389

    STRING: 9606.ENSP00000281928

    UniGene: Hs.603766