NOTCH2

The NOTCH2 gene provides instructions for making a protein called Notch2, a member of the Notch family of receptors. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Together, ligands and their receptors trigger signals between neighboring cells that affect cell development and function.

The Notch2 receptor and its 5 ligands, which include proteins called Jagged1, Jagged2, and Delta-like 1, 3 and 4, send signals that are important for development before birth. These signals control how certain types of cells grow and develop. Research indicates that signals triggered by the interaction between Notch2 and its ligands are important for the development of cells destined to be part of the heart, liver, kidney, teeth, and other structures in a growing embryo. After birth, Notch2 signaling is involved in tissue repair.

Alagille syndrome - caused by mutations in the NOTCH2 gene

Two mutations in the NOTCH2 gene have been identified in a small percentage of people with Alagille syndrome. These mutations probably result in a Notch2 receptor that is abnormally small or the wrong shape. As a result, binding between the Notch2 receptor and its ligand Jagged1 may be impaired and signaling disturbed. Disrupted signaling is believed to cause errors in development of the heart, liver, kidney, and other parts of the body, resulting in the signs and symptoms of Alagille syndrome.

other disorders - associated with the NOTCH2 gene

Mutations in the NOTCH2 gene have been linked with malformations in the kidneys, especially in filtering structures called glomeruli, which remove wastes from the blood. These mutations may interfere with the signals between cells that guide the development of glomeruli in the embryo. Abnormally small kidneys and kidney failure may also occur as a result of mutations in the NOTCH2 gene.