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  4. Recombinant Human T-box transcription factor TBX6 (TBX6)

Recombinant Human T-box transcription factor TBX6 (TBX6)

  • 货号：
    CSB-YP023258HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP023258HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP023258HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 货号：
    CSB-BP023258HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP023258HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    TBX6
  • Uniprot No.：
  • 别名：
    DFNB 67; DFNB67; SCDO5; T box 6; T box protein 6; T box transcription factor TBX 6; T box transcription factor TBX6; T-box protein 6; T-box transcription factor TBX6; Tbox 6; TBX 6; tbx6; TBX6_HUMAN
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full length protein
  • 表达区域：
    1-436
  • 氨基酸序列
    MYHPRELYPS LGAGYRLGPA QPGADSSFPP ALAEGYRYPE LDTPKLDCFL SGMEAAPRTL AAHPPLPLLP PAMGTEPAPS APEALHSLPG VSLSLENREL WKEFSSVGTE MIITKAGRRM FPACRVSVTG LDPEARYLFL LDVIPVDGAR YRWQGRRWEP SGKAEPRLPD RVYIHPDSPA TGAHWMRQPV SFHRVKLTNS TLDPHGHLIL HSMHKYQPRI HLVRAAQLCS QHWGGMASFR FPETTFISVT AYQNPQITQL KIAANPFAKG FRENGRNCKR ERDARVKRKL RGPEPAATEA YGSGDTPGGP CDSTLGGDIR ESDPEQAPAP GEATAAPAPL CGGPSAEAYL LHPAAFHGAP SHLPTRSPSF PEAPDSGRSA PYSAAFLELP HGSGGSGYPA APPAVPFAPH FLQGGPFPLP YTAPGGYLDV GSKPMY
  • 蛋白标签：
    Tag type will be determined during the manufacturing process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 产品提供形式：
    Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 复溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 货期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

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