FAM208A
Title: FAM208A: A Gene Linked to Autism Spectrum Disorder and Schizophrenia
Description
FAM208A (Family with sequence similarity 208, member A) is a gene located on chromosome 20 in humans. It encodes a protein of the same name that plays a crucial role in the development and function of the brain. Mutations in the FAM208A gene have been linked to several neurodevelopmental disorders, including autism spectrum disorder (ASD) and schizophrenia.
Associated Diseases
- Autism Spectrum Disorder (ASD): Mutations in FAM208A have been identified in individuals with ASD, particularly those with intellectual disability and language impairments. Studies have shown that these mutations disrupt the normal functioning of the gene, leading to abnormalities in brain development and function.
- Schizophrenia: Research has also linked FAM208A mutations to schizophrenia, a severe mental disorder characterized by hallucinations, delusions, and disorganized thinking. Alterations in FAM208A expression have been found to affect neuronal communication and synaptic plasticity, which are key processes in schizophrenia pathogenesis.
- Intellectual Disability: FAM208A mutations can cause intellectual disability, a condition characterized by significant limitations in cognitive abilities. The exact mechanism by which FAM208A mutations lead to intellectual disability is still being investigated, but it is believed to be associated with disruptions in neurodevelopment.
Did you Know ?
Approximately 1% of individuals with ASD have mutations in the FAM208A gene. This highlights the significant impact that this gene has on the development of neurodevelopmental disorders.
