JAG1

JAG1, or Jagged1 protein, alias AGS, AHD, AWS, HJ1, AGS1, DCHE, CD339, JAGL1, CMT2HH.
JAG1 is widely expressed in adult and fetal tissues, and its expression is upregulated in cervical squamous cell carcinoma and expressed in the myeloid cell line HS-27a.
JAG1 is a ligand for several Notch receptors and is involved in the regulation of Notch signaling.
JAG1 is implicated in both early and late stages of mammalian cardiovascular development, where it acts by inhibiting myofibroblast differentiation and enhancing fibroblast growth factor-induced angiogenesis.
JAG1 is associated with a variety of diseases, including Alagille syndrome and certain types of cancer, such as breast and adrenocortical carcinomas.
Mutations in JAG1 are associated with Alagille syndrome, a multisystemic dominant disorder primarily affecting the liver, heart, bones, eyes, face, kidneys, and vascular system, suggesting that loss of JAG1 function contributes to disease in these tissues.