Recombinant Human Treacher Collins syndrome protein (ab114719)

Overview

  • Product nameRecombinant Human Treacher Collins syndrome protein
  • Protein lengthProtein fragment

Description

  • NatureRecombinant
  • SourceWheat germ
  • Amino Acid Sequence
    • AccessionQ13428
    • SpeciesHuman
    • SequenceAEARKRRELLPLIYHHLLRAGYVRAAREVKEQSGQKCFLAQPVTLLDIYT HWQQTSELGRKRKAEEDAALQAKKTRVSDPI
    • Molecular weight35 kDa including tags
    • Amino acids2 to 82

Specifications

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.

  • Applications

    SDS-PAGE

    Western blot

    ELISA

  • FormLiquid
  • Additional notesProtein concentration is above or equal to 0.05 mg/ml.
    Best used within three months from the date of receipt.
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    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

General Info

  • Alternative names
    • 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
  • FunctionMay be involved in nucleolar-cytoplasmic transport. May play a fundamental role in early embryonic development, particularly in development of the craniofacial complex.
  • Involvement in diseaseDefects 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.
  • Sequence similaritiesContains 1 LisH domain.
  • Post-translational
    modifications
    Phosphorylated upon DNA damage, probably by ATM or ATR.
  • Cellular localizationNucleus > nucleolus.
  • Information by UniProt

Recombinant Human Treacher Collins syndrome protein images

  • 12.5% SDS-PAGE Stained with Coomassie Blue

References for Recombinant Human Treacher Collins syndrome protein (ab114719)

ab114719 has not yet been referenced specifically in any publications.

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