ITGB6 Gene

The ITGB6 gene (ITGB6 stands for "Integrin Subunit Beta 6") is a protein-coding gene located on chromosome 2q24.2. The ITGB6 gene encodes "integrin beta 6", a protein belonging to the integrin superfamily. Alternative splicing leads to several transcript variants.

Integrins are heterodimeric integral membrane proteins. Members of this family are adhesion receptors that function in signal transduction from the extracellular matrix to the cell. Integrins consist of an alpha chain and a beta chain. The encoded protein forms a dimer with an alpha-v chain. This heterodimer can bind to ligands such as fibronectin and transforming growth factor beta 1.

The protein encoded by the ITGB6 gene, integrin alpha-V:beta-6 (ITGAV:ITGB6) is a receptor for fibronectin and cytotactin. The protein receptor recognizes the sequence R-G-D in its ligands. Internalization of integrin alpha-V/beta-6 via clathrin-mediated endocytosis promotes carcinoma cell invasion. ITGAV:ITGB6 functions as a receptor for fibrillin-1 (FBN1) and mediates R-G-D-dependent cell adhesion to FBN1 (Jovanovic J et al. 2007). Integrin alpha-V:beta-6 (ITGAV:ITGB6) mediates the R-G-D-dependent release of transforming growth factor beta-1 (TGF-beta-1) from the regulatorylatency-associated peptide(LAP) and thus plays a key role in the activation of TGF-beta-1 (Annes JPet al (2004).

(Microbial Infections) Integrin ITGAV:ITGB6 acts as a receptor for coxsackievirus A9 and coxsackievirus B1. Furthermore, the molecule acts as a receptor for herpes simplex virus-1/HHV-1(Gianni Tet al. 2013).

Diseases associated with ITGB6 include:

• Amelogenesis Imperfecta, type 1H

and

• Alopecia-mental retardation syndrome 1.

1. Annes JPet al. (2004) Integrin alphaVbeta6-mediated activation of latent TGF-beta requires the latent TGF-beta binding protein-1. J Cell Biol 165:723-734.
2. Gianni Tet al. (2013) αvβ6- and αvβ8-integrins serve as interchangeable receptors for HSV gH/gL to promote endocytosis and activation of membrane fusion. PLoS Pathog 9: e1003806.
3. Jovanovic J et al. (2007) alphaVbeta6 is a novel receptor for human fibrillin-1. Comparative studies of molecular determinants underlying integrin-rgd affinity and specificity. J Biol Chem 282:6743-6751.
4. Ramsay AG et al (2007) HS1-associated protein X-1 regulates carcinoma cell migration and invasion via clathrin-mediated endocytosis of integrin alphavbeta6. Cancer Res 67:5275-5284.