FAM98A
Title: Uncovering the Role of FAM98A: A Gene Implicated in Neurological Disorders
Description:
What is FAM98A?
FAM98A 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, maturation, and function of synapses, the junctions between neurons that allow them to communicate with each other.
Associated Diseases:
Mutations in the FAM98A gene have been linked to several neurological disorders, including:
- Intellectual disability (ID)
- Autism spectrum disorder (ASD)
- Epilepsy
- Congenital muscular dystrophy
- Congenital myasthenic syndrome
Did you Know ?
Approximately 1 in 50 children with ID of unknown cause have mutations in the FAM98A gene.