无胸腺症关键蛋白6样抗体（迪格奥尔格综合征）

无胸腺症关键蛋白6样抗体（迪格奥尔格综合征）英文名称  Anti-DGCR6L 

中文名称  无胸腺症关键蛋白6样抗体（迪格奥尔格综合征） 

别    名  DGC6L_HUMAN; DGCR6L; DiGeorge syndrome critical region 6-like protein; Protein DGCR6L. 

浓    度  1mg/1ml 

规 格  0.2ml/200μg          

抗体来源  Rabbit  

克隆类型  polyclonal 

交叉反应  Human, Mouse, Rat, Cow, Rabbit   

产品类型  一抗    

研究领域  肿瘤 细胞生物 免疫学 神经生物学  

蛋白分子量  predicted molecular weight: 25kDa 

性    状  Lyophilized or Liquid 

免 疫 原  KLH conjugated synthetic peptide derived from human DGCR6L 

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 

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.  

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. 

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

无胸腺症关键蛋白6样抗体（迪格奥尔格综合征）产品介绍 Neural crest cell migration to the third and fourth pharyngeal pouches is a critical step in the structural formation of organs that are affected in DiGeorge syndrome. DGCR6 (DiGeorge syndrome critical region 6) is a nuclear protein that plays a role in neural crest cell migration and is located at the DiGeorge syndrome critical region (DGCR) on chromosome 22. Expressed ubiquitously with highest levels in heart, liver and skeletal muscle, DGCR6 shares high homology with the Drosophila gonadal (gdl) protein and with human Laminin-1, both of which are involved in early tissue development. The gene encoding DGCR6, along with other DGCR genes, is deleted in DiGeorge syndrome; a developmental disorder characterized by improper facial, cardiac and palate formation. Upregulation of DGCR6 is implicated in lung and colon adenocarcinomas, as well as in Burkitt’s lymphoma and lymphocytes transformed by EBV. Due to a duplication of the ancestral DGCR6 locus, there are two functional, highly homologous copies of the DGCR6 gene (designated DGCR6 and DGCR6L) on chromosome 22.

Function : May play a role in neural crest cell migration into the third and fourth pharyngeal pouches.

Subcellular Location : Nucleus. Predominantly nuclear.

Tissue Specificity : Widely expressed in fetal and adult tissues. Highest expression in liver, heart and skeletal muscle. Lower levels in pancreas and placenta. Weak expression in brain.

Similarity : Belongs to the gonadal family. 

Database links : UniProtKB/Swiss-Prot: Q9BY27.2

DiGeorge’syndrome为先天性胸腺发育不良所致原发性T细胞缺陷病，严重低钙和主动脉弓畸形。 DiGeorge’syndrome为非遗传无家族性。由于胚胎期第三、第四咽囊发育障碍，使胸腺和甲状旁腺缺如或发育不全而引起先天性异常。患儿常伴其他先天性畸形本综合征是多基因遗传性疾病，但染色体22q11区域缺失是主要原因，发病机制不很清楚，可能与子宫内的一种变异有关。