Integrin beta-4 is a protein established primarily in the epithelial cells that line the surface and cavities of the body which happen to play a significant role in strengthening and stabilizing theskin due to its component hemidesmosomes which is a microscopic structures that attach the superficial layer of the skin to the underlying layers, thus it helps to hold the layers of the skin together.
Integrin beta-4 mutations have been found to cause epidermolysis withpyloric atresia, a skin blistering that born with life threatening obstruction of the digestive tract pyloric atresia due to the alterations of the normal structure and function of the β4 integrin subunit preventing cells from producing enough, resulting to a defective protein. Mutations leads to a complete loss of α6β4 integrin that tend to show more sign and symptoms of this disease wherein cells in epidermis become more fragile and easily damaged throughfriction or minor trauma causing skin layers to separate leading to widespread formations of blisters.
Gene name: ITGB4
Protein name: Integrin beta-4