ITGB2

ITGB2 is a gene that encodes the Integrin beta-2 protein, which is a crucial component of the immune system. Integrin beta-2 is a part of the integrin family, a group of proteins that mediate adhesion between cells and the extracellular matrix, playing a vital role in cell signaling, migration, and maintenance of tissue integrity. The ITGB2 gene is located on human chromosome 21 and is essential for the proper functioning of leukocytes, including neutrophils, monocytes, and lymphocytes.

Function

The protein encoded by ITGB2 is involved in various cellular processes, including the immune response to infection and inflammation. It facilitates leukocyte adhesion and transmigration across the endothelium by interacting with its counter-receptors on endothelial cells. This interaction is critical for the immune surveillance and the inflammatory response, allowing leukocytes to exit the bloodstream and enter tissues where they can engage pathogens or damaged cells.

Clinical Significance

Mutations in the ITGB2 gene can lead to a rare autosomal recessive disorder known as Leukocyte Adhesion Deficiency (LAD), specifically LAD-1. Patients with LAD-1 have a severe impairment in the migration of leukocytes, leading to recurrent bacterial infections, delayed wound healing, and increased mortality. Diagnosis of LAD-1 is based on clinical findings, leukocyte function tests, and genetic testing for mutations in the ITGB2 gene.

Structure

The ITGB2 protein is a transmembrane glycoprotein that forms heterodimers with various integrin alpha subunits, including Integrin alpha L (CD11a), Integrin alpha M (CD11b), Integrin alpha X (CD11c), and Integrin alpha D (CD11d). These heterodimers have different ligand specificities and are involved in various aspects of the immune response, including leukocyte adhesion, migration, and phagocytosis.

Research

Ongoing research is focused on understanding the detailed mechanisms of ITGB2-mediated signaling and its role in immune responses. Studies are also exploring the potential of targeting ITGB2 and its pathways in the treatment of inflammatory diseases and cancer, where regulation of immune cell trafficking and infiltration into tissues plays a critical role.