Jag1

Enables Notch binding activity. Involved in several processes, including circulatory system development; nephron epithelium development; and positive regulation of Notch signaling pathway. Acts upstream of or within several processes, including ciliary body morphogenesis; negative regulation of cell differentiation; and positive regulation of cell differentiation. Located in adherens junction and apical plasma membrane. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; genitourinary system; and sensory organ. Used to study Alagille syndrome. Human ortholog(s) of this gene implicated in Alagille syndrome; Charcot-Marie-Tooth disease; congenital heart disease; multiple sclerosis; and tetralogy of Fallot. Orthologous to human JAG1 (jagged canonical Notch ligand 1). [provided by Alliance of Genome Resources, Nov 2024]

激活 Notch 结合活性。参与多个过程，包括循环系统发育；肾小管上皮发育；以及 Notch 信号通路的正向调控。在多个过程中发挥上游作用或位于其中，包括睫状体形态发生；细胞分化的负向调控；以及细胞分化的正向调控。定位于粘附连接和顶端质膜。在多个结构中表达，包括消化系统；心血管系统；中枢神经系统；泌尿生殖系统；以及感觉器官。用于研究 Alagille 综合征。与 Alagille 综合征相关的基因同源物；Charcot-Marie-Tooth 疾病；先天性心脏病；多发性硬化症；以及 Fallot 四联症。与人类 JAG1（jagged 标准型 Notch 配体 1）同源。由基因组资源联盟提供，2024 年 11 月]