产品展示
DGCR6L无胸腺症关键蛋白6样抗体（迪格奥尔格综合征）
点击次数：176发布时间：2012/12/5 13:33:40
更新日期：2024/9/5 14:43:01
所 在 地：中国大陆
产品型号：BY-9990R
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详细内容
货号：BY-9990R
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）
其他名称：名DGC6L_HUMAN;DGCR6L;DiGeorge syndrome critical region 6-like protein;Protein DGCR6L.
抗体来源：Rabbit
克隆类型：polyclonal
蛋白分子量：predicted molecular weight: 25kDa
纯化方法：affinity purified by Protein A
交叉反应：hu
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.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。
