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gene: ITGB4

id3691
symbolITGB4
organismHomo sapiens
full nameintegrin subunit beta 4
summaryIntegrins 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. [provided by RefSeq, Jul 2008]
variant-disease

ITGB4, 1-BP DEL, 1150G AND Epidermolysis bullosa junctionalis with pyloric atresia

NM_000213.4(ITGB4):c.1684T>C (p.Cys562Arg) AND Epidermolysis bullosa junctionalis with pyloric atresia

NM_001005619.1(ITGB4):c.4592G>A (p.Trp1531Ter) AND Epidermolysis bullosa junctionalis with pyloric atresia

NM_000213.3(ITGB4):c.3841C>T (p.Arg1281Trp) AND Epidermolysis bullosa junctionalis with pyloric atresia

NM_001005731.2(ITGB4):c.5009-15A>G AND Epidermolysis bullosa junctionalis with pyloric atresia

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