特雷彻·柯林斯综合征/下颔骨颜面发育不全相关蛋白抗体
规格：1mg/1ml
英文名： TCOF1
别名： MFD1; TCOF 1; TCOF_HUMAN; TCOF1; Treacher Collins syndrome protein; Treacle; Treacle protein.
分子量： 152kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human TCOF1
交叉反应：Human,
细胞定位：细胞核
特雷彻·柯林斯综合征/下颔骨颜面发育不全相关蛋白抗体产品介绍：background: This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] Function: May be involved in nucleolar-cytoplasmic transport. May play a fundamental role in early embryonic development, particularly in development of the craniofacial complex. Subcellular Location: Nucleus, nucleolus. Post-translational modifications: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: 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 特雷彻·柯林斯综合征/下颔骨颜面发育不全相关蛋白抗体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特雷彻·柯林斯综合征/下颔骨颜面发育不全相关蛋白抗体, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. Similarity: Contains 1 LisH domain. Gene ID: 6949 Database links: Entrez Gene: 6949 Human Entrez Gene: 21453 Mouse Omim: 154500 Human SwissProt: Q13428 Human SwissProt: O08784 Mouse Unigene: 519672 Human Unigene: 605019 Human Unigene: 2215 Mouse Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
特雷彻·柯林斯综合征/下颔骨颜面发育不全相关蛋白抗体产品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
研究领域：转录调节因子 表观遗传学
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid