ADGRG2
Adhesion G Protein-Coupled Receptor 2 (ADGRG2)
Description
Adhesion G protein-coupled receptor 2 (ADGRG2), also known as GPR97, is a transmembrane protein that belongs to the G protein-coupled receptor (GPCR) superfamily. GPCRs are responsible for transmitting signals from outside the cell to the inside, triggering various cellular responses.
ADGRG2 is expressed in various tissues, including the brain, heart, lung, and immune cells. It primarily functions as an adhesion receptor, mediating cell-cell interactions and regulating cell migration. ADGRG2 also plays a role in signal transduction, modulating cellular responses to external stimuli.
Associated Diseases
Mutations in ADGRG2 have been linked to several human diseases, including:
- Non-syndromic hearing loss
- Intellectual disability
- Autism spectrum disorder
- Schizophrenia
- Cardiovascular disease
The exact mechanisms by which ADGRG2 mutations contribute to these diseases are still under investigation. However, it is believed that disruptions in cell-cell interactions and signal transduction pathways may play a role.
Did you Know ?
According to a study published in the journal "Nature Genetics," approximately 1 in 500 individuals carry a pathogenic variant in ADGRG2. This suggests that ADGRG2 mutations may be a significant contributor to genetic disorders.
