FAM25A
Fam25A: An Essential Player in Neural Development and Function
Description:
Fam25A (family with sequence similarity 25, member A) is a gene that encodes a protein involved in the development and function of the nervous system. It belongs to a family of proteins known as the transmembrane AMPA receptor regulatory proteins (TARPs).
TARPs are essential components of the postsynaptic density (PSD), a complex of proteins that regulate the function of AMPA-type glutamate receptors. AMPA receptors are responsible for the majority of excitatory synaptic transmission in the brain, and their regulation is crucial for the formation of memories, learning, and other cognitive functions.
Associated Diseases:
Mutations in the Fam25A gene have been linked to several neurodevelopmental disorders, including:
- Autism spectrum disorder (ASD): Fam25A mutations are found in approximately 1% of people with ASD.
- Intellectual disability: Mutations in Fam25A can cause intellectual disability ranging from mild to severe.
- Epilepsy: Fam25A mutations have been associated with an increased risk of epilepsy, particularly in people with ASD.
- Schizophrenia: Some studies have suggested an association between Fam25A mutations and schizophrenia.
Did you Know ?
According to recent research, approximately 60% of people with ASD who have mutations in the Fam25A gene also have mutations in other genes that are involved in the regulation of AMPA receptors.
