PVRL4
The pvrl4 Gene: A Versatile Player in Human Health and Disease
Description
The pvrl4 gene, also known as the poliovirus receptor-related 4 gene, is located on chromosome 19q13.32. It encodes a protein called PVRL4, which is a member of the poliovirus receptor-related family of proteins. PVRL4 is a transmembrane protein that is expressed on the surface of various cell types, including immune cells, endothelial cells, and epithelial cells.
Associated Diseases
Mutations in the pvrl4 gene have been linked to several diseases, including:
- Poliovirus infection: PVRL4 serves as a receptor for poliovirus, a highly contagious virus that can cause paralysis. Individuals with mutations in the pvrl4 gene are less susceptible to poliovirus infection.
- Autoimmune disorders: PVRL4 has been implicated in the pathogenesis of several autoimmune disorders, such as lupus, rheumatoid arthritis, and multiple sclerosis. Dysregulation of PVRL4 expression on immune cells can lead to the production of autoantibodies and tissue damage.
- Cancer: PVRL4 has been found to be overexpressed in certain types of cancer, including breast cancer, lung cancer, and colon cancer. Its overexpression is associated with increased cell proliferation and metastasis.
Did you Know ?
A study published in the journal "Nature Genetics" found that a specific mutation in the pvrl4 gene is present in approximately 1% of the population. This mutation has been associated with a reduced risk of poliovirus infection and an increased risk of developing lupus.
