ITGA6

At least five mutations in the ITGA6 gene have been found to cause epidermolysis bullosa with pyloric atresia (EB-PA). In addition to skin blistering, people with EB-PA are born with a life-threatening obstruction of the digestive tract called pyloric atresia. Mutations in the ITGA6 gene account for about 5 percent of all cases of EB-PA.

The ITGA6 gene mutations responsible for EB-PA lead to a loss of functional α6β4 integrin. These mutations alter the normal structure and function of the α6 integrin subunit or prevent cells from producing enough of this subunit. The resulting shortage of functional α6β4 integrin causes cells in the epidermis to be fragile and easily damaged. Friction or other minor trauma can cause the skin layers to separate, leading to the widespread formation of blisters. It is less clear how mutations in the ITGA6 gene are related to pyloric atresia.

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Researchers believe that both α6β1 integrin and α6β4 integrin may play critical roles in the progression of cancerous tumors called carcinomas. These cancers arise in epithelial cells and can affect many tissues and organs, including the breast, lung, liver, prostate, and skin.

Changes in the location and activity of α6β1 integrin and α6β4 integrin within cancer cells are associated with the progression of carcinomas. The integrin proteins activate key signaling molecules, which trigger cancer cells to migrate through the body and invade other tissues. These signals also make cancer cells more resistant to self-destruction (apoptosis).

Recent studies suggest that, in addition to their roles in the progression of existing carcinomas, α6β1 integrin and α6β4 integrin may be involved in the initial formation of these tumors.