AMPH
Description
The AMPH gene, encodes a protein crucial for the development and function of the nervous system. It plays a critical role in regulating the formation and maintenance of synapses, the junctions between neurons where communication occurs. AMPH protein is involved in the trafficking and stability of certain receptors, such as the NMDA receptor, which is vital for learning and memory. Dysregulation of AMPH gene expression or function has been implicated in several neurological disorders, underscoring its significance in brain health.
Associated Diseases
Did you know?
AMPH gene mutations are associated with a rare neurological disorder known as Coffin-Siris syndrome, characterized by developmental delays, intellectual disability, and distinctive facial features.
