ADGRE2 : adhesion G protein-coupled receptor E2
Understanding ADGRE2: A Key Player in the Immune System
Description
The ADGRE2 gene, short for Adhesion G Protein-Coupled Receptor E2, holds the blueprint for a vital protein that plays a pivotal role in the functioning of our immune system. This protein, known as ADGRE2, is found in various immune cell types, particularly mast cells. Mast cells are abundant in bodily tissues like the skin, acting as front-line defenders, contributing to the immune system‘s protective capabilities. However, their involvement extends beyond routine protection; they also participate in allergic reactions, arising when the immune system overreacts to harmless stimuli. Despite its crucial role, the specific mechanism by which ADGRE2 operates within mast cells remains largely unknown.
Associated Diseases
Research has linked variations in the ADGRE2 gene with a range of immune-related conditions. These include:
- Mast cell activation syndrome: A disorder characterized by excessive mast cell degranulation, leading to symptoms such as flushing, itching, and abdominal pain.
- Atopic dermatitis: A chronic inflammatory skin condition often associated with allergies.
- Asthma: A respiratory disease causing difficulty breathing due to airway inflammation and narrowing.
Did you Know ?
A study involving individuals with a specific variant of the ADGRE2 gene found that they were significantly more likely to experience mast cell activation syndrome. This variant was present in approximately 15% of those with the condition, compared to only 2% of the general population.
