GNAQ : G protein subunit alpha q
Description
The GNAQ gene provides instructions for making a protein called G alpha q. This protein is a component of a signaling pathway that plays a crucial role in regulating cell growth, survival, and differentiation. It acts as a molecular switch, activating downstream signaling cascades in response to various external stimuli, including hormones, neurotransmitters, and growth factors. Mutations in the GNAQ gene can disrupt this delicate balance, leading to uncontrolled cell growth and the development of various diseases.
Associated Diseases
- Uveal melanoma (a type of eye cancer)
- Sturge-Weber syndrome (a disorder characterized by facial birthmarks, seizures, and neurological problems)
- Port-wine stain (a type of birthmark)
- Blue rubber bleb nevus syndrome (a rare disorder characterized by blue rubbery skin tumors)
- Juvenile myelomonocytic leukemia (a type of childhood leukemia)
- Glomeruloid hemangiomas (benign tumors in the liver and other organs)
Did you know?
Mutations in the GNAQ gene are particularly prevalent in uveal melanoma, with approximately 80% of cases carrying a mutation in this gene.
