Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


Reviewed September 2009

What is the official name of the ITGB4 gene?

The official name of this gene is “integrin subunit beta 4.”

ITGB4 is the gene's official symbol. The ITGB4 gene is also known by other names, listed below.

What is the normal function of the ITGB4 gene?

The ITGB4 gene provides instructions for making one part (the β4 subunit) of a protein known as an 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 integrin protein made with the β4 subunit is known as α6β4 integrin. This protein is found primarily in epithelial cells, which are cells that line the surfaces and cavities of the body. The α6β4 integrin 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.

Does the ITGB4 gene share characteristics with other genes?

The ITGB4 gene belongs to a family of genes called CD (CD molecules). It also belongs to a family of genes called fibronectin type III domain containing (fibronectin type III domain containing). It also belongs to a family of genes called ITG (integrins).

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? ( in the Handbook.

How are changes in the ITGB4 gene related to health conditions?

epidermolysis bullosa with pyloric atresia - caused by mutations in the ITGB4 gene

At least 60 mutations in the ITGB4 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 ITGB4 gene account for about 80 percent of all cases of EB-PA.

ITGB4 gene mutations alter the normal structure and function of the β4 integrin subunit or prevent cells from producing enough of this subunit. As a result, α6β4 integrin is defective or missing. Mutations that lead to a complete or near-complete loss of α6β4 integrin tend to cause more severe signs and symptoms of EB-PA, while mutations that alter the structure or stability of this protein usually cause milder signs and symptoms. A 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 ITGB4 gene are related to pyloric atresia.

cancers - associated with the ITGB4 gene

Researchers believe that α6β4 integrin may play a critical role 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, colon, and skin.

Changes in the location and activity of α6β4 integrin within cancer cells are associated with the progression of carcinomas. The integrin protein activates 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 its role in the progression of existing carcinomas, α6β4 integrin may be involved in the initial formation of these tumors.

Where is the ITGB4 gene located?

Cytogenetic Location: 17q25

Molecular Location on chromosome 17: base pairs 75,721,342 to 75,757,819

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (

The ITGB4 gene is located on the long (q) arm of chromosome 17 at position 25.

The ITGB4 gene is located on the long (q) arm of chromosome 17 at position 25.

More precisely, the ITGB4 gene is located from base pair 75,721,342 to base pair 75,757,819 on chromosome 17.

See How do geneticists indicate the location of a gene? ( in the Handbook.

Where can I find additional information about ITGB4?

You and your healthcare professional may find the following resources about ITGB4 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the ITGB4 gene or gene products?

  • CD104
  • CD104 antigen
  • GP150
  • Integrin beta4
  • Integrin beta(4)
  • integrin beta 4
  • integrin, beta-4
  • integrin, beta 4
  • integrin beta 4
  • integrin beta-4 subunit
  • Lymphocyte antigen CD104

See How are genetic conditions and genes named? ( in the Handbook.

What glossary definitions help with understanding ITGB4?

apoptosis ; atresia ; basement membrane ; cancer ; cell ; cell adhesion ; colon ; digestive ; epidermis ; epithelial ; extracellular ; extracellular matrix ; gene ; growth factor ; integrins ; kinase ; lymphocyte ; obstruction ; oncogene ; progression ; 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.


  • Ashton GH, Sorelli P, Mellerio JE, Keane FM, Eady RA, McGrath JA. Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia. Br J Dermatol. 2001 Feb;144(2):408-14. (
  • Dang N, Klingberg S, Rubin AI, Edwards M, Borelli S, Relic J, Marr P, Tran K, Turner A, Smith N, Murrell DF. Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature. Acta Derm Venereol. 2008;88(5):438-48. doi: 10.2340/00015555-0484. Review. (
  • Guo W, Pylayeva Y, Pepe A, Yoshioka T, Muller WJ, Inghirami G, Giancotti FG. Beta 4 integrin amplifies ErbB2 signaling to promote mammary tumorigenesis. Cell. 2006 Aug 11;126(3):489-502. (
  • Lipscomb EA, Mercurio AM. Mobilization and activation of a signaling competent alpha6beta4integrin underlies its contribution to carcinoma progression. Cancer Metastasis Rev. 2005 Sep;24(3):413-23. Review. (
  • Nakano A, Pulkkinen L, Murrell D, Rico J, Lucky AW, Garzon M, Stevens CA, Robertson S, Pfendner E, Uitto J. Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations. Pediatr Res. 2001 May;49(5):618-26. (
  • NCBI Gene (
  • Pulkkinen L, Kim DU, Uitto J. Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4). Am J Pathol. 1998 Jan;152(1):157-66. (
  • Pulkkinen L, Rouan F, Bruckner-Tuderman L, Wallerstein R, Garzon M, Brown T, Smith L, Carter W, Uitto J. Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense. Am J Hum Genet. 1998 Nov;63(5):1376-87. (
  • Yoon SO, Shin S, Lipscomb EA. A novel mechanism for integrin-mediated ras activation in breast carcinoma cells: the alpha6beta4 integrin regulates ErbB2 translation and transactivates epidermal growth factor receptor/ErbB2 signaling. Cancer Res. 2006 Mar 1;66(5):2732-9. (


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? ( in the Handbook.

Reviewed: September 2009
Published: February 8, 2016