JAG2
Description
The JAG2 gene provides instructions for making a protein called Jagged-2. This protein plays a crucial role in cell-to-cell communication, influencing cell growth, development, and differentiation. Jagged-2 interacts with other proteins, particularly Notch receptors, to activate signaling pathways that control these processes. Its impact extends to various tissues and organs, influencing their proper formation and function. Notably, mutations in the JAG2 gene are associated with developmental disorders and certain types of cancer.
Associated Diseases
- Alagille syndrome
- Cardiac defects
- Hepatic fibrosis
- Renal disease
- Cancer (e.g., leukemia, lymphoma)
- Other developmental abnormalities
Did you know?
JAG2 gene mutations can cause Alagille syndrome, a rare genetic disorder characterized by distinctive facial features, heart defects, and liver problems.
