PVRL1
PVRL1 Gene: A Comprehensive Guide
Introduction
The PVRL1 gene, located on chromosome 11q22.3, plays a crucial role in the development and function of the nervous system, immune system, and skin. It encodes a protein called nectin-1, which is essential for cell-cell adhesion and signaling.
Description
PVRL1 is a transmembrane protein that belongs to the nectin family. It consists of an extracellular domain, a transmembrane domain, and an intracellular domain. The extracellular domain interacts with other nectins and with ligands such as afadin and MAGUKs. The transmembrane domain anchors the protein in the cell membrane, while the intracellular domain mediates signaling events.
Associated Diseases
Mutations in the PVRL1 gene have been linked to a number of diseases, including:
- Herpes simplex encephalitis (HSE): HSE is a severe viral infection of the brain that can lead to seizures, coma, and even death. Mutations in PVRL1 can impair the immune response to the virus, making individuals more susceptible to HSE.
- Pemphigus vulgaris: Pemphigus vulgaris is an autoimmune blistering disease that affects the skin and mucous membranes. Mutations in PVRL1 can disrupt the normal adhesion of skin cells, leading to blisters and lesions.
- Neurodevelopmental disorders: Studies have suggested that mutations in PVRL1 may be associated with neurodevelopmental disorders such as autism and intellectual disability. However, further research is needed to confirm these findings.
Did you Know ?
Approximately 1 in 2,000 people worldwide carry a mutation in the PVRL1 gene.
