Clone | 3E1 |
Concentration | PleaserefertotheCertificateofAnalysisforthelot-specificconcentration. |
Host | Mouse |
Specificity | ReactswithHumanbeta4integrin.Theantigenispresentonepithelialcells. |
Isotype | IgG1 |
SpeciesReactivity | |
AntibodyType | MonoclonalAntibody |
EntrezGeneNumber | |
EntrezGeneSummary | Integrinsareheterodimerscomprisedofalphaandbetasubunits,thatarenoncovalentlyassociatedtransmembraneglycoproteinreceptors.Differentcombinationsofalphaandbetapolypeptidesformcomplexesthatvaryintheirligand-bindingspecificities.Integrinsmediatecell-matrixorcell-celladhesion,andtransducedsignalsthatregulategeneexpressionandcellgrowth.Thisgeneencodestheintegrinbeta4subunit,areceptorforthelaminins.Thissubunittendstoassociatewithalpha6subunitandislikelytoplayapivotalroleinthebiologyofinvasivecarcinoma.Mutationsinthisgeneareassociatedwithepidermolysisbullosawithpyloricatresia.Multiplealternativelysplicedtranscriptvariantsencodingdistinctisoformshavebeenfoundforthisgene. |
GeneSymbol | |
PurificationMethod | Unpurified |
UniProtNumber | |
UniProtSummary | FUNCTION:SwissProt:P16144#Integrinalpha-6/beta-4isareceptorforlaminin.Itplaysacriticalstructuralroleinthehemidesmosomeofepithelialcells. SIZE:1822aminoacids;202151Da SUBUNIT:Heterodimerofanalphaandabetasubunit.Beta-4associateswithalpha-6. SUBCELLULARLOCATION:Membrane;Single-passtypeImembraneprotein. TISSUESPECIFICITY:Integrinalpha-6/beta-4ispredominantlyexpressedbyepithelia.Isoformbeta-4Disalsoexpressedincolonandplacenta.Isoformbeta-4Eisalsoexpressedinepidermis,lung,duodenum,heart,spleenandstomach. DOMAIN:SwissProt:P16144Thefibronectintype-III-likedomainsbindBPAG1andplectinandprobablyalsorecruitBP230. DISEASE:SwissProt:P16144#DefectsinITGB4areacauseofepidermolysisbullosaletaliswithpyloricatresia(EB-PA)[MIM:226730];alsoknownasjunctionalepidermolysisbullosawithpyloricatresia(PA-JEB)oraplasiacutiscongenitawithgastrointestinalatresia.EB-PAischaracterizedbymucocutaneousfragilityandgastrointestinalatresia,whichmostcommonlyaffectsthepylorus.&DefectsinITGB4areacauseofgeneralizedatrophicbenignepidermolysisbullosa(GABEB)[MIM:226650].Thisnonlethalformofjunctionalepidermolysisbullosaischaracterizedbylife-longblisteringoftheskin,associatedwithhairandtoothabnormalities. SIMILARITY:Belongstotheintegrinbetachainfamily.&Contains1Calx-betadomain.&Contains4fibronectintype-IIIdomains.&Contains1VWFAdomain. |