Recombinant人Treacher Collins syndrome protein (ab114719)

概述

  • 产品名称Recombinant人Treacher Collins syndrome protein
  • 蛋白长度Protein fragment

描述

  • 性质Recombinant
  • 来源Wheat germ
  • 氨基酸序列
    • AccessionQ13428
    • 种属Human
    • 序列AEARKRRELLPLIYHHLLRAGYVRAAREVKEQSGQKCFLAQPVTLLDIYT HWQQTSELGRKRKAEEDAALQAKKTRVSDPI
    • 分子量35 kDa including tags
    • 氨基酸2 to 82

技术指标

Our Abpromise guarantee covers the use of ab114719 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • 应用

    SDS-PAGE

    Western blot

    ELISA

  • 形式Liquid
  • 补充说明Protein concentration is above or equal to 0.05 mg/ml.
    Best used within three months from the date of receipt.
  • Concentration information loading...

制备和贮存

  • 稳定性和存储

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.3% Glutathione, 0.79% Tris HCl

常规信息

  • 别名
    • Mandibulofacial dysostosis
    • MFD1
    • Nucleolar trafficking phosphoprotein
    • TCOF 1
    • TCOF_HUMAN
    • TCOF1
    • TCS
    • TCS1
    • Treacher Collins Franceschetti syndrome 1
    • Treacher Collins syndrome
    • Treacher Collins syndrome protein
    • Treacle
    • Treacle protein
    see all
  • 功能May be involved in nucleolar-cytoplasmic transport. May play a fundamental role in early embryonic development, particularly in development of the craniofacial complex.
  • 疾病相关Defects in TCOF1 are the cause of Treacher Collins syndrome type 1 (TCS1) [MIM:154500]. It is a form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss.
  • 序列相似性Contains 1 LisH domain.
  • 翻译后修饰Phosphorylated upon DNA damage, probably by ATM or ATR.
  • 细胞定位Nucleus > nucleolus.
  • Information by UniProt

Recombinant Human Treacher Collins syndrome protein 图像

  • 12.5% SDS-PAGE Stained with Coomassie Blue

Recombinant Human Treacher Collins syndrome protein (ab114719)参考文献

ab114719 has not yet been referenced specifically in any publications.

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