ADGRB2
ADGRB2: The Gene Linked to Neurodevelopmental Disorders
Description
ADGRB2 (adhesion G protein-coupled receptor B2) is a gene that encodes a protein involved in cell adhesion and signaling. It plays a crucial role in various developmental processes, particularly in the formation and function of the nervous system.
Associated Diseases
Mutations in the ADGRB2 gene have been linked to several neurodevelopmental disorders, including:
- Autism spectrum disorder (ASD): Studies have identified mutations in ADGRB2 in individuals with ASD, suggesting its potential role in the disorder‘s development.
- Intellectual disability (ID): Mutations in ADGRB2 can lead to severe intellectual disabilities accompanied by communication difficulties and social impairment.
- Schizophrenia: Research has linked specific genetic variations in ADGRB2 to an increased risk of developing schizophrenia.
- Epilepsy: Mutations in ADGRB2 have been associated with certain types of epilepsy, including Dravet syndrome and generalized tonic-clonic seizures.
Did you Know ?
Approximately 1 in 400 individuals with autism spectrum disorder have a mutation in the ADGRB2 gene. This suggests that ADGRB2 plays a significant role in the development and manifestation of ASD.
