Recombinant Human Treacher Collins syndrome protein (ab114719)

製品の概要

  • 製品名
    Recombinant Human Treacher Collins syndrome protein
  • タンパク質長
    Protein fragment

製品の詳細

  • 由来
    Recombinant
  • 由来
    Wheat germ
  • アミノ酸配列
    • アクセッション番号
    • 生物種
      Human
    • 配列
      AEARKRRELLPLIYHHLLRAGYVRAAREVKEQSGQKCFLAQPVTLLDIYT HWQQTSELGRKRKAEEDAALQAKKTRVSDPI
    • 分子量
      35 kDa including tags
    • 領域
      2 to 82

特性

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.

  • アプリケーション

    SDS-PAGE

    Western blot

    ELISA

  • 製品の状態
    Liquid
  • 備考
    Protein concentration is above or equal to 0.05 mg/ml.
    Best used within three months from the date of receipt.
  • Concentration information loading...

前処理および保存

  • 保存方法および安定性

    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

関連情報

  • 別名
    • 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
  • 機能
    May be involved in nucleolar-cytoplasmic transport. May play a fundamental role in early embryonic development, particularly in development of the craniofacial complex.
  • 関連疾患
    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.
  • 配列類似性
    Contains 1 LisH domain.
  • 翻訳後修飾
    Phosphorylated upon DNA damage, probably by ATM or ATR.
  • 細胞内局在
    Nucleus > nucleolus.
  • Information by UniProt

画像

  • 12.5% SDS-PAGE Stained with Coomassie Blue

参考文献

ab114719 has not yet been referenced specifically in any publications.

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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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