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Complete information for JAG1 gene (Protein Coding), Jagged Canonical Notch Ligand 1, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
Jagged1 (JAG1) is one of five cell surface proteins (ligands) that interact with four receptors in the mammalian Notch signaling pathway. The Notch signaling pathway is a highly conserved pathway that functions to est...
JAG1基因的作用机制 Jagged1蛋白质通过与Notch受体结合，启动一系列信号转导事件。 具体来说，当Jagged1与Notch受体结合后，Notch受体会被切割，释放出Notch受体的胞内域（NICD）。 NICD随后进入细胞核，与转录因子CSL结合，改变基因表达模式，从而调控细胞行为。
Jagged1 (JAG1) is one of the 5 cell surface ligands that functions primarily in the highly conserved Notch signaling pathway. Notch signaling plays a critical role in cellular fate determination and is active througho...
The JAG1 gene provides instructions for making a protein called Jagged-1, which is involved in an important pathway by which cells can signal to each other. Learn about this gene and related health conditions.
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锯齿状典型 Notch 配体 1： JAG1 编码的锯齿状 1 蛋白是果蝇锯齿状蛋白的人类同系物。 Human jagged 1 是受体 Notch 1 的配体，后者参与信号转导过程。改变锯齿状 1 蛋白的突变会导致 Alagille 综合征。 Jagged 1 通过 Notch 1 发出的信号也被证明在造血作用中发挥作用。[RefSeq 提供，2019 年 11 月]
JAG1的详细信息，包括基因名称，代码，染色体位置，相互作用关系和通路，简述为由JAG1编码的锯齿1蛋白是Drosophilia锯齿状蛋白的人类同源。 人类锯齿状1是对受体槽口1，Drosophilia锯齿状受体切口的后一个人类同源物的??配位体。
采用Sanger测序进行家系验证，发现患儿母亲该位点杂合变异 (图3B)，患儿父亲为野生型 (图3C)。 该变异目前在国内外尚未见报道。 患儿有胆汁淤积、心脏病变和特殊面容，结合 JAG1 基因检测结果，Alagille综合征 (Alagille syndrome，ALGS)诊断成立。
JAG1 A gene with 26 exons extending over 36 kb, JAG1 is a ligand for Notch receptors. The Notch gene family encodes transmembrane receptors and ligands that are critical for cell fate decisions made during development...
