ADGRE3
ADGRE3: A Gene with Extensive Implications in Human Health
Description
ADGRE3 (Adhesion G Protein-Coupled Receptor E3) is a gene that encodes a protein involved in cell adhesion and signaling pathways. It is located on chromosome 19p13.3 and consists of 11 exons. The protein encoded by ADGRE3 contains an extracellular domain with immunoglobulin-like and fibronectin-like domains, a transmembrane domain, and a cytoplasmic domain with multiple tyrosine phosphorylation sites.
Associated Diseases
Mutations or dysregulation of ADGRE3 have been linked to several human diseases, including:
- Epilepsy: Mutations in ADGRE3 can lead to a rare form of childhood epilepsy called Ohtahara syndrome.
- Intellectual Disability: Mutations in ADGRE3 have been associated with intellectual disability, particularly in individuals with Ohtahara syndrome.
- Autism Spectrum Disorder (ASD): Studies have found an increased prevalence of ADGRE3 mutations in individuals with ASD.
- Schizophrenia: Some research suggests that alterations in ADGRE3 expression may be involved in schizophrenia.
- Immune Disorders: ADGRE3 plays a role in immune cell signaling, and mutations in the gene have been linked to immune dysregulation.
Did you Know ?
Approximately 1 in 30,000 individuals is affected by Ohtahara syndrome, a severe epileptic encephalopathy caused by mutations in ADGRE3.
