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.

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.