特雷彻·柯林斯综合征/下颔骨颜面发育不全相关蛋白抗体

英文名称    TCOF1    

中文名称    特雷彻·柯林斯综合征/下颔骨颜面发育不全相关蛋白抗体    

别    名    MFD1; TCOF 1; TCOF_HUMAN; TCOF1; Treacher Collins syndrome protein; Treacle; Treacle protein.    

 特雷彻·柯林斯综合征/下颔骨颜面发育不全相关蛋白抗体            

说 明 书    0.2ml      

研究领域    转录调节因子  表观遗传学      

抗体来源    Rabbit    

克隆类型    Polyclonal    

交叉反应    Human,     

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.    

分 子 量    152kDa    

细胞定位    细胞核     

性    状    Lyophilized or Liquid    

浓    度    1mg/1ml    

免 疫 原    KLH conjugated synthetic peptide derived from human TCOF1    

亚    型    IgG    

纯化方法    affinity purified by Protein A    

储 存 液    Preservative: 15mM Sodium Azide, Constituents: 1% BSA, 0.01M PBS, pH 7.4    

保存条件    Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.    

 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 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.

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    

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hz-7568R RNF122  环指蛋白122抗体

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hz-7575R SEC14 like protein 2/Squalene transfer protein  α维生素E相关蛋白抗体

hz-7576R SEN1/  细胞衰老相关蛋白1抗体

hz-7577R SLC25A6  线粒体载体腺嘌呤核苷酸转运蛋白6抗体

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hz-7580R ZFAND5  AN1型锌指蛋白5抗体

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hz-7583R BTF/BCLAF1  Bcl2相关转录因子抗体

hz-7584R Bcl rambo/Bcl 2 like 13 protein  Bcl2样凋亡蛋白13抗体

hz-7585R Bcl G/BCL2 like 14  Bcl2样凋亡蛋白14抗体

hz-7586R BOK/Bcl 2 like protein 9  Bcl2样凋亡蛋白9抗体

hz-7587R Bmf/Bcl2 modifying factor  Bcl2蛋白修饰因子抗体

hz-7588R A4GALT/CD77  α1,4-半乳糖基转移酶1

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hz-7590R Blood Group Kell Antigen/CD238  凯尔血型糖蛋白CD238抗体

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