ITGAE

ITGAE (Integrin Subunit Alpha E) is a protein coding gene located on the human chromosome 17. The protein encoded by this gene is a member of the integrin family of cell surface receptors, which mediate cell-cell and cell-extracellular matrix interactions.

Function

The ITGAE gene encodes a protein that is a member of the integrin family. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. This gene encodes the integrin alpha E chain. Unlike other integrin alpha chains, alpha E undergoes post-translational cleavage in the extracellular domain to yield disulfide-linked heavy and light chains. This protein associates with the beta 7 subunit to form the integrin heterodimer alpha4beta7, which plays a role in immune response by adhering to its ligand mucosal addressin cell adhesion molecule-1 (MAdCAM-1) expressed on the high endothelial venules of Peyer's patches. The alpha E subunit is also a receptor for the Epstein-Barr virus (EBV), a human herpes virus associated with cancer and autoimmune disease.

Clinical Significance

Mutations in the ITGAE gene have been associated with inflammatory bowel disease (IBD). The ITGAE protein is expressed in the gut and is involved in the adhesion of lymphocytes to the gut epithelium. This interaction is thought to play a role in the pathogenesis of IBD.

See Also

• Integrin
• Inflammatory bowel disease
• Epstein-Barr virus