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JAG1

Wednesday 11 June 2003

Jagged 1 is a cell surface ligand in the Notch signaling pathway.

Pathology

- 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