JAG1

JAG1 or Jagged1 is a human gene that encodes a protein known as Jagged1. This protein is a ligand for multiple Notch receptors and is involved in the mediation of Notch signaling. It is implicated in a variety of developmental processes and is expressed in many tissues.

Function

The protein encoded by the JAG1 gene is the human homolog of the Drosophila serrate gene. Both the human and Drosophila proteins are cell surface proteins that are ligands for Notch family receptors. The Notch signaling pathway is an intercellular signaling mechanism that is essential for proper embryonic development. The structure of the protein is similar to that of its Drosophila counterpart. It is composed of multiple EGF-like repeats and a DSL domain.

Clinical significance

Mutations in the JAG1 gene are associated with Alagille syndrome (AGS), an autosomal dominant disorder characterized by abnormalities in the liver, heart, skeleton, eye, and facial structures. It is also associated with Tetralogy of Fallot, a congenital heart defect which is a leading cause of cyanotic congenital heart disease.

File:Jagged1 protein.png

Jagged1 protein

See also

• Notch signaling pathway
• Alagille syndrome
• Tetralogy of Fallot

External links

• GeneCards - JAG1

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