TMEM246
TMEM246 Gene: A Comprehensive Guide
Description
The TMEM246 gene is located on chromosome 16q12.1 and encodes the transmembrane protein 246 (TMEM246). This protein is primarily expressed in the central nervous system, specifically in neurons and astrocytes. TMEM246 is involved in regulating neuronal excitability, synapse formation, and synaptic plasticity.
Associated Diseases
Mutations in the TMEM246 gene have been linked to several neurodevelopmental disorders, including:
- Autism spectrum disorder (ASD): ASD is a complex developmental condition characterized by difficulties in social interaction, communication, and repetitive behaviors.
- Intellectual disability (ID): ID refers to significant impairments in cognitive functioning and adaptive behaviors.
- Schizophrenia: Schizophrenia is a serious mental illness characterized by hallucinations, delusions, disorganized thinking, and impaired social functioning.
Did you Know ?
Approximately 1% of individuals with ASD have mutations in the TMEM246 gene. This makes TMEM246 one of the most common genetic risk factors for ASD.
