FAM223A
fam223a: A Gene Implicated in Neurodevelopmental Disorders
Description
fam223a, also known as WDR77 or KIAA1267, is a gene that encodes a protein with various functions within the cell. It is primarily involved in protein translation, the process by which genetic information is converted into functional proteins. fam223a plays a crucial role in the assembly of the translation initiation complex, which initiates the synthesis of new proteins.
Associated Diseases
Mutations in the fam223a gene have been associated with several neurodevelopmental disorders, including:
- Intellectual disability (ID): ID is characterized by significant limitations in intellectual functioning and adaptive skills.
- Autism spectrum disorder (ASD): ASD is a group of developmental disorders characterized by social and communication challenges, as well as repetitive behaviors.
- Attention deficit hyperactivity disorder (ADHD): ADHD is a neurodevelopmental disorder characterized by difficulty paying attention, hyperactivity, and impulsivity.
- Epilepsy: fam223a mutations have been linked to certain types of epilepsy, characterized by recurrent seizures.
Did you Know ?
Studies suggest that mutations in the fam223a gene may account for approximately 1-2% of cases of intellectual disability. This highlights the potential significance of this gene in neurodevelopmental disorders.
