FAM183A
FAM183A: A Novel Gene Linked to Neurodevelopmental Disorders
Description
FAM183A (Family With Sequence Similarity 183 Member A) is a gene that encodes a protein involved in the regulation of synaptic function and neuronal development. It plays a crucial role in the formation, maintenance, and plasticity of synapses, the connections between neurons that allow them to communicate.
Associated Diseases
Mutations in the FAM183A gene have been linked to a range of neurodevelopmental disorders, including:
- Intellectual disability (ID): Ranging from mild to severe, affecting cognitive abilities and daily functioning.
- Autism spectrum disorder (ASD): Characterized by social and communication difficulties, as well as repetitive behaviors.
- Epilepsy: A neurological disorder that causes seizures, which are episodes of abnormal electrical activity in the brain.
- Schizophrenia: A severe mental illness that can disrupt thinking, perception, and behavior.
Did you Know ?
Studies have shown that mutations in the FAM183A gene are relatively rare, occurring in approximately 1 in 10,000 to 1 in 50,000 individuals. However, these mutations contribute to a disproportionate number of cases of ID and ASD, suggesting their significant impact on neurodevelopment.
