RALGAPA1
Description
The RALGAPA1 gene encodes a protein known as RAL GTPase activating protein alpha 1. This protein acts as a molecular switch, regulating the activity of the RAL GTPase, a small protein involved in various cellular processes like vesicle trafficking, cell growth, and proliferation. RALGAPA1 plays a crucial role in regulating these processes by inactivating RAL GTPase, ensuring proper cellular function. Mutations in RALGAPA1 can disrupt this delicate balance, leading to a range of disorders.
Associated Diseases
- Cancer (particularly lung, breast, and colorectal cancer)
- Neurodevelopmental disorders (including autism spectrum disorder)
- Metabolic disorders (such as obesity and diabetes)
Did you know?
RALGAPA1 is found to be highly expressed in the brain, suggesting its critical role in neuronal function and development.