ADGRA3
What is adgra3
Adgra3, also known as adhesion G protein-coupled receptor A3, is a protein that plays a crucial role in cell adhesion and signaling. It is found on the surface of cells and interacts with other proteins to facilitate cell-cell interactions, cell migration, and tissue development.
Associated Diseases
Mutations in the adgra3 gene have been associated with several diseases, including:
- Congenital Adhesion Deficiency Type III (CAD III): A rare genetic disorder characterized by impaired cell adhesion, leading to skin blistering, eye problems, and developmental abnormalities.
- Axenfeld-Rieger Syndrome: A genetic condition that affects eye development, causing glaucoma, corneal clouding, and abnormal iris shape.
- Microcephaly: A condition where the head is abnormally small, often associated with intellectual disability.
- Renal Agenesis: Failure of the kidneys to develop during pregnancy, leading to end-stage renal disease.
- Pulmonary Atresia: A congenital heart defect characterized by absent or narrowed pulmonary valve, leading to severe heart failure.
Did you Know ?
Approximately 25% of individuals with CAD III have mutations in the adgra3 gene.
