FAM86B2
FAM86B2: A Key Player in Neurodevelopmental Disorders
Description
FAM86B2 (Family with sequence similarity 86 member B2) is a protein-coding gene located on chromosome 11q12.2. It encodes a protein known as FAM86B2, which is primarily expressed in the brain, particularly in the hippocampus, amygdala, and cerebellum. FAM86B2 is involved in several cellular processes, including protein synthesis, RNA processing, and synaptic function.
Associated Diseases
Mutations in the FAM86B2 gene have been associated with several neurodevelopmental disorders, including:
- Autism spectrum disorder (ASD): Studies have identified mutations in FAM86B2 in individuals with ASD. These mutations often result in reduced levels of the FAM86B2 protein, impairing neuronal development and function.
- Intellectual disability (ID): Mutations in FAM86B2 have also been linked to ID. These mutations can cause developmental delays, impaired cognitive abilities, and behavioral problems.
- Schizophrenia: FAM86B2 has been implicated in the development of schizophrenia, a severe mental disorder characterized by hallucinations, delusions, and disorganized thinking.
- Epilepsy: Mutations in FAM86B2 have been associated with an increased risk of developing epilepsy, a disorder characterized by recurrent seizures.
Did you Know ?
According to a study published in the journal "Psychiatric Genetics," approximately 1% of individuals with ASD have mutations in the FAM86B2 gene, making it one of the most common genetic risk factors for the disorder.
