Automated description from the Alliance of Genome Resources (Release 7.4.0)
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).
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