ITGB4

Integrin beta-4 ;
GP150 ;
CD antigen CD104 ;

disease:Defects in ITGB4 are a cause of epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]; also known as junctional epidermolysis bullosa with pyloric atresia (PA-JEB) or aplasia cutis congenita with gastrointestinal atresia. EB-PA is an autosomal recessive , frequently lethal , epidermolysis bullosa with variable involvement of skin , nails , mucosa , and with variable effects on the digestive system. It is characterized by mucocutaneous fragility , aplasia cutis congenita , and gastrointestinal atresia , which most commonly affects the pylorus. Pyloric atresia is a primary manifestation rather than a scarring process secondary to epidermolysis bullosa. ,disease:Defects in ITGB4 are a cause of generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]. GABEB is a non-lethal , adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin , associated with hair and tooth abnormalities. ,domain:The fibronectin type-III-like domains bind BPAG1 and plectin and probably also recruit BP230. ,function:Integrin alpha-6/beta-4 is a receptor for laminin. It plays a critical structural role in the hemidesmosome of epithelial cells. ,similarity:Belongs to the integrin beta chain family. ,similarity:Contains 1 Calx-beta domain. ,similarity:Contains 1 VWFA domain. ,similarity:Contains 4 fibronectin type-III domains. ,subunit:Heterodimer of an alpha and a beta subunit. Beta-4 associates with alpha-6. ,tissue specificity:Integrin alpha-6/beta-4 is predominantly expressed by epithelia. Isoform beta-4D is also expressed in colon and placenta. Isoform beta-4E is also expressed in epidermis , lung , duodenum , heart , spleen and stomach. ,

cell adhesion , cell-matrix adhesion , cell surface receptor linked signal transduction , integrin-mediated signaling pathway , biological adhesion , cell projection organization , cell projection assembly , microspike assembly , cell-substrate adhesion , filopodium assembly ,

Cell membrane; Single-pass type I membrane protein. Cell membrane; Lipid-anchor. Cell junction , hemidesmosome. Colocalizes with DST at the leading edge of migrating keratinocytes.