JAG1 and NOTCH2 encode for proteins that are crucial to the notch gene–signaling cascade. Specifically, JAG1 encodes for a surface-binding ligand that regulates the notch signaling pathway. It plays a crucial role in cell signaling during embryonic development. If the pathway is disrupted due to mutations, an infant will not develop properly.<unk>  causes bile duct paucity, which is characterized by narrow and malformed bile ducts. Bile duct paucity causes bile to build up in the liver, resulting in scarring of the liver which hinders the liver's normal functions, like blood filtration and drug metabolism. The notch gene–signaling cascade is also important for cell–cell recognition, which involves gene regulation mechanisms that control multiple cell differentiation processes during embryonic and adult life, and is specially important for: * Atrioventricular (AV) canal development * Ventricular development * Ventricle (heart) outflow tract development * Angiogenesis * Pancreatic development * Intestinal development * Bone development * Respiratory system development * Neuron cell differentiation * Neurite development * Gliogenesis * Adult brain function
Alagille syndrome
DiGeorge syndrome
Treacher Collins syndrome
LIG4 syndrome
MEDNIK syndrome
GRACILE syndrome
Kabuki syndrome
Hajdu–Cheney syndrome