Integrin beta 4 ist ein Gen, das durch das Symbol ITGB4 kodiert wird. Im Allgemeinen auch bezeichnet als: Integrin beta-4; GP150; ITGB4. Integrin beta 4 hat eine Masse von 202.17kDa, eine Aminosäurelänge von 1822, und ist an folgenden Krankheiten beteiligt: Epidermolysis bullosa letalis, with pyloric atresia; Generalized atrophic benign epidermolysis bullosa; Epidermolysis bullosa simplex, Weber-Cockayne type.
Wir bieten 14 antikörper gegen Integrin beta 4, aufgewachsen in Kaninchen und Maus, welche geeignet sind für WB, IHC, ELISA, ICC/IF, FC and IP mit Proben abgeleitet von Human, Maus, Ratte und Frettchen.
Gen- und Proteininformationen
UniProt Zusammenfassung
Integrin alpha-6/beta-4 is a receptor for laminin. Plays a critical structural role in the hemidesmosome of epithelial cells. Is required for the regulation of keratinocyte polarity and motility. ITGA6:ITGB4 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling (PubMed:20682778). ITGA6:ITGB4 binds to IGF1 and this binding is essential for IGF1 signaling (PubMed:22351760). ITGA6:ITGB4 binds to IGF2 and this binding is essential for IGF2 signaling (PubMed:28873464).
Entrez Zusammenfassung
Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities. Integrins mediate cell-matrix or cell-cell adhesion, and transduced signals that regulate gene expression and cell growth. This gene encodes the integrin beta 4 subunit, a receptor for the laminins. This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the biology of invasive carcinoma. Mutations in this gene are associated with epidermolysis bullosa with pyloric atresia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.
Gewebespezifität
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.
Rolle bei Krankheiten
Epidermolysis bullosa letalis, with pyloric atresia: 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.
Generalized atrophic benign epidermolysis bullosa: A non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities.
Epidermolysis bullosa simplex, Weber-Cockayne type: A form of intraepidermal epidermolysis bullosa characterized by blistering limited to palmar and plantar areas of the skin.
Sequenzähnlichkeiten
Belongs to the integrin beta chain family.
Posttranslationale Modifikation
Palmitoylated by DHHC3 at several cysteines of the membrane-proximal region, enhancing stability and cell surface expression. Palmitoylation also promotes secondary association with tertaspanins.
Zellort
Cell membrane. Cell membrane. Cell junction > Hemidesmosome.
Colocalizes with DST at the leading edge of migrating keratinocytes.
