产品货号 :  mlR16711

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.  

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 :  ELISA=1:500-1000 IHC-P=1:400-800 IHC-F=1:400-800 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/ml

免 疫 原 :  KLH conjugated synthetic peptide derived from human TCOF1:1401-1488/1488

亚    型 :  IgG

纯化方法 :  affinity purified by Protein A

储 存 液 :  0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.

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.

PubMed :  PubMed

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.

SWISS:

Q13428

Gene ID:

6949

Important Note:

This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.