FAM179A
Blog Post: FAM179A: A Gene Linked to Neurodevelopmental Disorders
Description:
FAM179A is a gene located on chromosome 11q14.1. It encodes a protein called family with sequence similarity 179, member A (FAM179A). FAM179A is highly expressed in the developing brain and plays a crucial role in synaptic formation and neuronal migration.
Associated Diseases:
Mutations in the FAM179A gene have been linked to several neurodevelopmental disorders, including:
- Intellectual disability
- Autism spectrum disorder (ASD)
- Schizophrenia
- Epilepsy
Individuals with FAM179A mutations often exhibit cognitive impairments, developmental delays, and behavioral problems. They may also experience seizures, movement disorders, and language difficulties.
Did you Know ?
Approximately 1% of individuals with intellectual disability have a mutation in the FAM179A gene. This makes FAM179A one of the most common genetic causes of intellectual disability.
