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TBX6 Antibody

  • 货号：
    CSB-PA023258GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    O95947
  • 基因名：
    TBX6
  • 别名：
    DFNB 67 antibody; DFNB67 antibody; SCDO5 antibody; T box 6 antibody; T box protein 6 antibody; T box transcription factor TBX 6 antibody; T box transcription factor TBX6 antibody; T-box protein 6 antibody; T-box transcription factor TBX6 antibody; Tbox 6 antibody; TBX 6 antibody; tbx6 antibody; TBX6_HUMAN antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human TBX6
  • 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：
    T-box transcription factor that plays an essential role in the determination of the fate of axial stem cells: neural vs mesodermal. Acts in part by down-regulating, a specific enhancer (N1) of SOX2, to inhibit neural development. Seems to play also an essential role in left/right axis determination and acts through effects on Notch signaling around the node as well as through an effect on the morphology and motility of the nodal cilia.
  • 基因功能参考文献：
    1. TBX6 plays a role during human spine development and interacts with other key elements during the process of somitogenesis [review] PMID: 27437870
    2. One patient with extensive SDV was carrying a proximal 16p11.2 microdeletion associated with a TBX6 rare missense change. One patient with a clinical diagnosis of SCD was compound heterozygous for two TBX6 rare missense changes. The three rare variants were affecting the chromatin-binding domain. Our data illustrate the variable expressivity of recessive TBX6 ranging from congenital scoliosis to spondylocostal dysostos. PMID: 27861764
    3. Although all Chinese patients had one or more hemivertebrae, two Japanese patients did not have hemivertebra. The compound heterozygosity of null mutations and the common risk haplotype in TBX6 also causes CS in Japanese patients with similar incidence. Hemivertebra was not a specific type of spinal malformation in TBX6-associated CS (TACS). PMID: 28054739
    4. Mutations of RBM8A and TBX6 are associated with disorders of the mullerian ducts. PMID: 25813282
    5. Compound inheritance of a rare null mutation and a hypomorphic allele of TBX6 accounted for up to 11% of congenital scoliosis cases in the series that we analyzed. PMID: 25564734
    6. Data have identified TBX6 as a new gene associated with Mullerian aplasia. The results also support the relevance of LHX1 and CNVs in the development of this congenital malformation. PMID: 23954021
    7. we have used exome capture and next-generation sequencing to identify a stoploss mutation in TBX6 that segregates with disease in two generations of one family. PMID: 23335591
    8. first report on single nucleotide polymorphisms of TBX6 gene in congenital scoliosis (CS) that suggests genetic variants of TBX6 gene is associated with CS in the Chinese Han population. PMID: 20228709

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  • 相关疾病：
    Spondylocostal dysostosis 5 (SCDO5)
  • 亚细胞定位：
    Nucleus.
  • 组织特异性：
    Expressed in fetal tail bud, posterior spinal tissue, intervertebral disk and testis. Also expressed in adult testis, kidney, lung, muscle and thymus.
  • 数据库链接：

    HGNC: 11605

    OMIM: 122600

    KEGG: hsa:6911

    STRING: 9606.ENSP00000279386

    UniGene: Hs.198301