FAM74A6
FAM74A6: A Gene Linked to Neurodevelopmental Disorders
Description:
FAM74A6 (family with sequence similarity 74, member A6) is a gene that encodes a protein involved in the regulation of cell growth and differentiation. It plays a crucial role in neurodevelopment, particularly in the formation and function of synapses, which are the connections between nerve cells.
Associated Diseases:
Mutations in FAM74A6 have been associated with several neurodevelopmental disorders, including:
- Intellectual disability (ID): Intellectual disability refers to a group of conditions characterized by significant limitations in intellectual functioning and adaptive skills.
- Autism spectrum disorder (ASD): ASD is a developmental disorder that affects social interaction, communication, and behavior.
- Schizophrenia: Schizophrenia is a chronic mental illness that affects a person‘s thoughts, feelings, and behavior.
Did you Know ?
A large-scale study involving over 100,000 individuals found that mutations in FAM74A6 occur in approximately 0.1% of people with ID. However, the prevalence may vary depending on the specific population studied and the types of mutations involved.
