Description
ITGB4 (Integrin, beta-4), also known as CD104 (Cluster of Differentiation 104), is a human gene. The gene encodes the integrin beta 4 subunits, a receptor for the laminins. This subunit tends to associate with alpha 6 subunits and is likely to play a pivotal role in the biology of invasive carcinoma. The ITGB4 gene is mapped on 17q25.1. Using expression profiling, Yang et al. found that ITGB4 was upregulated 6-fold by ZKSCAN3 in transfected human colon cancer cells compared with parental cells. They confirmed that ZKSCAN3 bound the promoter of ITGB4 in vitro and in vivo. ITGB4 knockdown by short hairpin RNA countered ZKSCAN3-augmented anchorage-independent colony formation in the colon cancer cell lines. The integrin beta-4 subunit is characterized by an unusually long cytoplasmic domain that harbors 4 fibronectin type III (FNIII) repeats, residing in 2 pairs separated by a connecting segment. Vidal et al. found compound heterozygosity for mutations in the ITGB4 gene in an infant with junctional epidermolysis bullosa associated with pyloric atresia