ADCY7
Adenylate Cyclase 7 (ADCY7): A Key Enzyme in Cellular Signaling
Description
Adenylate cyclase 7 (ADCY7) is an enzyme that catalyzes the conversion of adenosine triphosphate (ATP) into cyclic adenosine monophosphate (cAMP). cAMP acts as a second messenger in a wide variety of cellular processes, including metabolism, gene expression, and cell differentiation. ADCY7 is a transmembrane protein with six transmembrane domains and two catalytic domains. It is located in the plasma membrane and is activated by the binding of G protein-coupled receptors (GPCRs).
Associated Diseases
Mutations in the ADCY7 gene have been linked to several diseases, including:
- Bardet-Biedl syndrome (BBS): BBS is a rare genetic disorder characterized by obesity, polydactyly, retinal degeneration, renal abnormalities, and developmental delays. ADCY7 mutations are responsible for approximately 10% of BBS cases.
- Congenital heart defects: ADCY7 mutations have been linked to a variety of congenital heart defects, including septal defects, tetralogy of Fallot, and patent ductus arteriosus.
- Retinitis pigmentosa: ADCY7 mutations can cause retinitis pigmentosa, a degenerative eye disease that leads to loss of vision.
- Obesity: ADCY7 has been implicated in the development of obesity. Mutations in the ADCY7 gene have been found in individuals with severe obesity.
Did you Know ?
- Approximately 1 in 100,000 people have BBS, making it a rare genetic disorder.
