ADCY6
ADCY6: A Crucial Protein in Health and Disease
Description:
ADCY6 (adenylate cyclase 6) is a gene that encodes an enzyme known as adenylate cyclase, which plays a vital role in cellular signaling. This enzyme catalyzes the conversion of ATP (adenosine triphosphate) to cyclic AMP (cAMP), a second messenger molecule that regulates various cellular processes.
Associated Diseases:
Mutations in the ADCY6 gene have been linked to several diseases, including:
- Congenital Central Hypoventilation Syndrome (CCHS): A rare condition characterized by impaired breathing at birth due to reduced respiratory drive.
- Spasmodic Dysphonia: A disorder that causes uncontrollable spasms in the vocal cords, affecting speech.
- Coronary Artery Disease (CAD): ADCY6 mutations have been associated with an increased risk of CAD, a leading cause of heart attacks.
- Type 2 Diabetes Mellitus (T2DM): Decreased ADCY6 activity has been implicated in the development of insulin resistance and T2DM.
- Insulinomas: Rare pancreatic tumors that secrete excessive insulin, leading to hypoglycemia.
Did you Know ?
- Mutations in ADCY6 are estimated to occur in approximately 1 in 200,000 newborns worldwide.
