The ITGB6 gene: its role in experimental and clinical biology

Highlights • Expression is restricted to epithelial cells. • Gene knockout promotes increased risk of cancer. • Is associated with fibrosis and multiple cancers. • Mutations in humans have been associated with alopecia, amelogenesis imperfecta, periodontitis and emphysema, matching murine data.
Integrin αvβ6 is a membrane-spanning heterodimeric glycoprotein involved in wound healing and the pathogenesis of diseases including fibrosis and cancer. Therefore, it is of great clinical interest for us to understand the molecular mechanisms of its biology. As the limiting binding partner in the heterodimer, the β6 subunit controls αvβ6 expression and availability. Here we describe our understanding of the ITGB6 gene encoding the β6 subunit, including its structure, transcriptional and post-transcriptional regulation, the biological effects observed in ITGB6 deficient mice and clinical cases of ITGB6 mutations.