AES
Description
The AES gene, located on chromosome 19, encodes for a protein crucial for the development and function of the brain. It plays a vital role in regulating the activity of neurons, particularly in the hippocampus, an area essential for memory and learning. Mutations in the AES gene can disrupt these processes, leading to a range of neurological disorders, primarily epilepsy.
Associated Diseases
- Epilepsy (especially childhood epilepsy)
- Intellectual disability
- Developmental delay
- Autism spectrum disorder
- Cerebral palsy
Did you know?
The AES gene is highly expressed in the hippocampus, a brain region associated with memory and learning, highlighting its crucial role in cognitive function.