Total Treacle Cell-Based Colorimetric ELISA Kit

  • Catalog No.：KA3712C
  • Applications：ELISA
  • Reactivity：Human;Mouse
    • Gene Name：
    • TCOF1
    • Human Gene Id：
    • 6949
    • Human Swiss Prot No：
    • Q13428
    • Mouse Swiss Prot No：
    • O08784
    • Storage Stability：
    • 2-8°C/6 months
    • Other Name：
    • Treacle protein (Treacher Collins syndrome protein)
    • Detection Method：
    • Colorimetric
    • Background：
    • disease:Defects in TCOF1 are the cause of Treacher Collins syndrome (TCS) [MIM:154500]. TCS is an autosomal dominant disorder of craniofacial development that occurs with an incidence of 1/50,000 live births. The clinical features of TCS are bilaterally symmetrical and include: (1) abnormalities of the external ears, atresia of the external ear canals, and malformation of the middle ear ossicles, which may result in conductive hearing loss; (2) lateral downward sloping of palpebral fissures, frequently with colobomas of the lower eyelids; (3) hypoplasia of the mandible and zygomatic complex; (4) cleft palate.,function:May be involved in nucleolar-cytoplasmic transport. May play a fundamental role in early embryonic development, particularly in development of the craniofacial complex.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Contains 1 LisH domain.,
    • Function：
    • skeletal system development, transcription, transcription, DNA-dependent, transcription from RNA polymerase I promoter, rRNA transcription, RNA biosynthetic process, transcription of nuclear rRNA large RNA polymerase I transcript,
    • Subcellular Location：
    • Nucleus, nucleolus .

    Attributes

    • Code：
    • KA3712C
    • Size
    • 96 / well
    • Price$：
    • 330
    • Delivery：
    • 2024-12-09
    Order

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