FUNCTION: SwissProt: P16144 # Integrin alpha-6/beta-4 is a receptor for laminin. It plays a critical structural role in the hemidesmosome of epithelial cells.
SIZE: 1822 amino acids; 202151 Da
SUBUNIT: Heterodimer of an alpha and a beta subunit. Beta-4 associates with alpha-6.
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
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.
DOMAIN: SwissProt: P16144 The fibronectin type-III-like domains bind BPAG1 and plectin and probably also recruit BP230.
DISEASE: SwissProt: P16144 # 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 characterized by mucocutaneous fragility and gastrointestinal atresia, which most commonly affects the pylorus. & Defects in ITGB4 are a cause of generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]. This nonlethal form of junctional epidermolysis bullosa is characterized by life- long blistering of the skin, associated with hair and tooth abnormalities.
SIMILARITY: Belongs to the integrin beta chain family. & Contains 1 Calx-beta domain. & Contains 4 fibronectin type-III domains. & Contains 1 VWFA domain.