JAG1
jagged1
Jagged 1 is a cell surface ligand in the Notch signaling pathway.
JAG1 germline mutations in:
- Alagille syndrome (60-70% of patients)
- extrahepatic biliary atresia (#12297837#)
- familial tetralogy of Fallot
- association hearing loss, congenital heart defects, and posterior embryotoxon
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