FAM83E
Title: Unraveling the Enigma of FAM83E: A Pivotal Gene in Neurological Disorders
Description:
FAM83E, a gene located on chromosome 19p13.2, encodes a protein with crucial roles in synaptic function and neuronal development. Dysregulation of FAM83E has been implicated in several neurological disorders, including autism spectrum disorder (ASD) and schizophrenia. This blog post delves into the fascinating world of FAM83E, exploring its intricate connections with neurological health.
Associated Diseases:
- Autism Spectrum Disorder (ASD): Studies have identified genetic variants within FAM83E associated with an increased risk of developing ASD. These variants impair the protein‘s function, affecting synaptic plasticity and neuronal communication.
- Schizophrenia: Alterations in FAM83E expression have also been linked to schizophrenia. Researchers believe that disturbances in the gene‘s role in synaptic pruning and neurodevelopment contribute to the disease‘s pathology.
Did you Know ?
- According to a large-scale genome-wide association study, individuals with a rare variant in FAM83E have an approximately 10-fold increased risk of developing ASD.
