|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
Genes in the ITG gene family provide instructions for making proteins called integrins. Each integrin is made up of two parts (subunits), an alpha (α) subunit and a beta (β) subunit. Researchers have discovered 18 α subunits and eight β subunits, each produced from a different gene in the ITG family. These subunits combine in various configurations to produce 24 different integrins.
Integrins are embedded in the membrane that surrounds cells, including immune cells, skin cells, and cells that line the surfaces and cavities of the body (epithelial cells). Integrins are usually turned off (inactive) but get turned on (activated) by signals from within the cell. Active integrins attach (bind) other proteins called ligands; integrins and ligands fit together like a key into a lock. By binding to ligands, integrins regulate the attachment of cells to one another (cell-cell adhesion) and to the surrounding network of proteins and other molecules (cell-matrix adhesion). Ligand binding and cell or matrix adhesion send signals to the inside of the cell that can affect cell growth and division (proliferation), survival, or maturation (differentiation), as well as the activity (expression) of genes.
Because integrins function in a variety of tissues, mutations in subunit genes can cause a wide variety of disorders. Mutations in the ITGB2 gene impair the functioning of integrins on immune cells and result in a condition called leukocyte adhesion deficiency type 1 that leads to severe, recurrent bacterial and fungal infections. Mutations in the ITGA6 or ITGB4 gene affect integrins on skin cells and epithelial cells that line the digestive tract. These mutations cause a skin condition called epidermolysis bullosa with pyloric atresia. Individuals with this condition develop skin blistering as well as an obstruction of the digestive tract.
The HUGO Gene Nomenclature Committee (HGNC) provides an index of gene families (http://www.genenames.org/cgi-bin/genefamilies/) and their member genes.
Genetics Home Reference summarizes the normal function and health implications of these members of the ITG gene family: ITGA6, ITGB2, and ITGB4.
Genetics Home Reference includes these conditions related to genes in the ITG gene family:
You may find the following resources about the ITG gene family helpful.
atresia ; cell ; cell adhesion ; deficiency ; differentiation ; digestive ; epithelial ; gene ; integrins ; leukocyte ; ligand ; obstruction ; proliferation ; pyloric ; receptor ; subunit
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (/glossary).
These sources were used to develop the Genetics Home Reference summary for the ITG gene family.
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.