UniProtSummary | FUNCTION:SwissProt:P55268#Bindingtocellsviaahighaffinityreceptor,lamininisthoughttomediatetheattachment,migrationandorganizationofcellsintotissuesduringembryonicdevelopmentbyinteractingwithotherextracellularmatrixcomponents. SIZE:1798aminoacids;195981Da SUBUNIT:Lamininisacomplexglycoprotein,consistingofthreedifferentpolypeptidechains(alpha,beta,gamma),whichareboundtoeachotherbydisulfidebondsintoacross-shapedmoleculecomprisingonelongandthreeshortarmswithglobulesateachend.Beta-2isasubunitoflaminin-3(S-laminin),laminin-4(S-merosin),andlaminin-7(KS-laminin). SUBCELLULARLOCATION:Secreted,extracellularspace.Note=S-lamininisconcentratedinthesynapticcleftoftheneuromuscularjunction. DOMAIN:SwissProt:P55268Thealpha-helicaldomainsIandIIarethoughttointeractwithotherlamininchainstoformacoiledcoilstructure.&DomainsVIandIVareglobular. DISEASE:SwissProt:P55268#DefectsinLAMB2arethecauseofPiersonsyndrome[MIM:609049];alsoknownasmicrocoria-congenitalnephroticsyndrome.Piersonsyndromeischaracterizedbynephroticsyndromewithneonatalonset,diffusemesangialsclerosisandeyeabnormalitieswithmicrocoriaastheleADIngclinicalfeature.Deathusuallyoccurswithinthefirstweeksoflife.Diseaseseveritydependsonthemutationtype:nontruncatingLAMB2mutationsmaydisplayvariablephenotypesrangingfromamildervariantofPiersonsyndrometoisolatedcongenitalnephroticsyndrome.&DefectsinLAMB2areacauseofcongenitalnephroticsyndrome[MIM:609049].Congenitalnephroticsyndromeconstitutesaheterogeneousgroupofconditionshavingincommonthedisruptionofnormalglomerularpermselectivity.CongenitalnephroticsyndromeduetoLAMB2mutationsmaybeassociatedwithocularabnormalities. SIMILARITY:Contains13lamininEGF-likedomains.&Contains1lamininIVtypeBdomain.&Contains1lamininN-terminaldomain. |