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ITGA6 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

ITGA6 gene

The ITGA6 gene provides instructions for creating the α6 subunit of integrin proteins, which are essential for cell adhesion and the structural integrity of the skin.

Normal Function

The ITGA6 gene provides instructions for making one part (the α6 subunit) of two proteins known as α6β4 integrin and α6β1 integrin. Integrins are a group of proteins that regulate the attachment of cells to one another (cell-cell adhesion) and to the surrounding network of proteins and other molecules (cell-matrix adhesion). Integrins also transmit chemical signals that regulate cell growth and the activity of certain genes.

The α6β4 integrin protein is found primarily in epithelial cells, which are cells that line the surfaces and cavities of the body. This protein plays a particularly important role in strengthening and stabilizing the skin. It is a component of hemidesmosomes, which are microscopic structures that anchor the outer layer of the skin (the epidermis) to underlying layers. As part of a complex network of proteins in hemidesmosomes, α6β4 integrin helps to hold the layers of skin together.

The other integrin made with the α6 subunit, α6β1 integrin, functions during the formation of organs and tissues before birth.

Health Conditions Related to Genetic Changes

Epidermolysis bullosa with pyloric atresia

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.

Cancers

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.

Other Names for This Gene

  • CD49f
  • CD49f Antigens
  • Cluster of differentiation antigen 49f
  • FLJ18737
  • integrin alpha 6
  • integrin alpha chain, alpha 6
  • Integrin alpha6
  • integrin, alpha 6
  • integrin, alpha-6
  • ITA6_HUMAN
  • Lymphocyte antigen CD49F
  • VLA-6

Frequently Asked Questions

Pyloric atresia is a medical emergency requiring immediate surgical intervention. The obstruction must be surgically corrected to allow food to pass from the stomach into the intestines. This surgery is critical for survival and is typically performed soon after diagnosis in newborns. Nutritional support, often through intravenous feeding, is also essential before and after surgery.
The prognosis for infants with EB-PA is often severe, primarily due to the life-threatening complications of pyloric atresia and the extensive skin blistering. While surgical correction of pyloric atresia is possible, the overall outcome depends on the severity of both the skin and gastrointestinal involvement, as well as the presence of other complications. Long-term care involves managing skin wounds, preventing infections, and providing nutritional support.
Yes, EB-PA caused by ITGA6 mutations is inherited in an autosomal recessive pattern. This means a child must inherit two copies of the mutated ITGA6 gene (one from each parent) to develop the condition. If a couple has had one child with EB-PA, there is a 25% chance that each subsequent child will also be affected. Genetic counseling is highly recommended for families to understand carrier status, recurrence risks, and available reproductive options.
Beyond the characteristic fragile skin and blistering, individuals with EB-PA due to ITGA6 mutations are born with pyloric atresia, a life-threatening obstruction of the digestive tract. This means the opening from the stomach to the small intestine is completely closed or severely narrowed, preventing food from passing through. Symptoms of pyloric atresia include severe vomiting (often bile-stained) shortly after birth, abdominal distension, and an inability to feed. Other potential issues can include kidney problems and nail abnormalities.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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