|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “integrin, alpha 6.”
ITGA6 is the gene's official symbol. The ITGA6 gene is also known by other names, listed below.
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. The α6β1 integrin protein has not been as well studied as α6β4 integrin.
The ITGA6 gene belongs to a family of genes called CD (CD molecules).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
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.
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.
Cytogenetic Location: 2q31.1
Molecular Location on chromosome 2: base pairs 172,427,585 to 172,506,452
The ITGA6 gene is located on the long (q) arm of chromosome 2 at position 31.1.
More precisely, the ITGA6 gene is located from base pair 172,427,585 to base pair 172,506,452 on chromosome 2.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about ITGA6 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
antigens ; apoptosis ; atresia ; cancer ; cell ; cell adhesion ; differentiation ; digestive ; epidermis ; epithelial ; extracellular ; extracellular matrix ; gene ; growth factor ; integrins ; kinase ; lymphocyte ; obstruction ; oncogene ; progression ; prostate ; protein ; pyloric ; receptor ; signal transduction ; subunit ; transduction ; transmembrane ; trauma ; vascular
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.