PVRL2
The PVRL2 Gene: A Key Player in Immune Regulation and Disease
Description
The PVRL2 gene (Poliovirus Receptor-Related 2) encodes a protein known as herpesvirus entry mediator (HVEM), an essential co-receptor for the entry of herpes simplex virus (HSV) into host cells. HVEM is expressed on the surface of immune cells, such as T cells and macrophages, and plays a crucial role in modulating immune responses.
Associated Diseases
Mutations or variations in the PVRL2 gene have been linked to several autoimmune and infectious diseases, including:
- Herpes Simplex Virus (HSV) Infection: Mutations in PVRL2 can impair HVEM function, rendering immune cells less susceptible to HSV infection.
- Multiple Sclerosis (MS): Studies have identified associations between specific PVRL2 variants and an increased risk of MS, suggesting a potential role in disease susceptibility.
- Autoimmune Thyroid Disease: Autoimmune thyroiditis and Graves' disease have been linked to certain PVRL2 polymorphisms, indicating involvement in thyroid immune regulation.
- Inflammatory Bowel Disease (IBD): Alterations in PVRL2 expression have been observed in IBD patients, suggesting an immune dysregulation component.
Did you Know ?
According to the National Institutes of Health (NIH), approximately 1 in 100 people worldwide carry a mutation in the PVRL2 gene, highlighting its prevalence and potential impact on human health.