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  4. TBCD Antibody

TBCD Antibody

  • 货号：
    CSB-PA023229GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q9BTW9
  • 基因名：
    TBCD
  • 别名：
    Beta tubulin cofactor D antibody; Beta-tubulin cofactor D antibody; KIAA0988 antibody; SSD 1 antibody; SSD-1 antibody; SSD1 antibody; tbcd antibody; TBCD_HUMAN antibody; tfcD antibody; Tubulin folding cofactor D antibody; Tubulin specific chaperone D antibody; Tubulin-folding cofactor D antibody; Tubulin-specific chaperone D antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human TBCD
  • 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 0.02% 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：
    Tubulin-folding protein implicated in the first step of the tubulin folding pathway and required for tubulin complex assembly. Involved in the regulation of microtubule polymerization or depolymerization, it modulates microtubule dynamics by capturing GTP-bound beta-tubulin (TUBB). Its ability to interact with beta tubulin is regulated via its interaction with ARL2. Acts as a GTPase-activating protein (GAP) for ARL2. Induces microtubule disruption in absence of ARL2. Increases degradation of beta tubulin, when overexpressed in polarized cells. Promotes epithelial cell detachment, a process antagonized by ARL2. Induces tight adherens and tight junctions disassembly at the lateral cell membrane. Required for correct assembly and maintenance of the mitotic spindle, and proper progression of mitosis. Involved in neuron morphogenesis.
  • 基因功能参考文献：
    1. TBCD protein was localized in the middle region and in the tail of the sperm while in the oocyte the localization was cytosolic. PMID: 28583220
    2. s conclude that TBCD is a novel functional contributor to the mammalian cerebral cortex development, and that the pathological mechanism resulting from the mutations we describe is likely to involve compromised interactions with one or more TBCD-interacting effectors that influence the dynamics and behaviour of the neuronal cytoskeleton. PMID: 28158450
    3. conclude that the TBCD*ARL2*beta-tubulin complex represents a functional intermediate in the beta-tubulin folding pathway whose activity is regulated by the cycling of nucleotides on ARL2 PMID: 28970104
    4. Results identified ARL2 and TBCD, as important in tubulin folding and microtubule dynamics. Both ARL2 and TBCD also localize to centrosomes. [review] PMID: 27400436
    5. variants. We identified two candidate homozygous missense variants, R942Q in the tubulin-folding cofactor D (TBCD) gene and H250Q in the bromo-adjacent homology domain and coiled-coil containing 1 (BAHCC1) gene, located on chromosome 17q25.3 with an interval of 1.4 Mbp. PMID: 27928163
    6. Intractable epilepsy, intellectual disability and acquired microcephaly, and cortical atrophy and thinned corpus callosum as major MRI features, caused by biallelic variants in TBCD. PMID: 27807845
    7. findings establish that defective TBCD function underlies a recognizable encephalopathy and drives accelerated microtubule polymerization and enhanced microtubule stability, underscoring an additional cause of altered microtubule dynamics with impact on neuronal function and survival in the developing brain PMID: 27666370
    8. Defects of microtubule formation caused by TBCD mutations may underlie the pathomechanism of a neurodegenerative encephalopathy. PMID: 27666374
    9. genetic polymorphism is associated with bone mineral accretion in children with asthma receiving intermittent oral corticosteroids PMID: 26025128
    10. Data show that bovine and human TBCD have functionally identical roles in tubulin heterodimer assembly, and that the inability of human TBCD to disrupt microtubule integrity can be overcome by siRNA-mediated suppression of expression of Arl2. PMID: 20740604
    11. provides first evidence that beta-tubulin cofactor D plays a role in cells independent of its presumed role in folding tubulin heterodimers PMID: 17704193
    12. Cofactor D functions as a centrosomal protein and is required for the recruitment of the gamma-tubulin ring complex at centrosomes and organization of the mitotic spindle PMID: 18171676

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  • 相关疾病：
    Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT)
  • 亚细胞定位：
    Cell junction, tight junction. Lateral cell membrane. Cytoplasm. Cell junction, adherens junction. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.
  • 蛋白家族：
    TBCD family
  • 组织特异性：
    Ubiquitously expressed.
  • 数据库链接：

    HGNC: 11581

    OMIM: 604649

    KEGG: hsa:6904

    STRING: 9606.ENSP00000347719

    UniGene: Hs.464391