OMIMOnlineMendelianInheritanceinManAll DatabasesPubMedNucleotideProteinGenomeStructurePMCTaxonomyOMIM SearchPubMedProteinNucleotideCoreNucleotideGSSESTStructureGenomeBooksCancerChromosomesConservedDomainsdbGaP3DDomainsGeneGenomeProjectGENSATGEOProfilesGEODataSetsHomoloGeneJournalsMeSHNCBIWebSiteNLMCatalogOMIAOMIMPMCPopSetProbeProteinClustersPubChemBioAssayPubChemCompoundPubChemSubstanceSNPTaxonomyToolKitUniGeneUniSTSLimitsPreview/IndexHistoryClipboardDetailsDisplayTitlesDetailedClinicalSynopsisAllelicVariantsASN1XMLLinkOutRelatedEntriesBookLinksGeneLinksGenomeLinksGEOProfileLinksHomoloGeneLinksNucleotideLinksOMIALinksPubChemBioAssayLinksPMCLinksProteinLinksPubMed(calculated)LinksPubMed(cited)LinksSNPLinksGeneGenotypeLinksStructureLinksUniGeneLinksUniSTSLinksShow5102050100200500SendtoTextFilePrinterClipboardAll1OMIMdbSNP0OMIMUniSTS0*601568LinksADDUCIN3ADD3AlternativetitlessymbolsADDUCINGAMMAADDUCINLIKEADDLADD3/NUP98FUSIONGENEINCLUDEDGenemaplocus10q242q243TEXTFromahumanfetalbraincDNAlibraryKatagirietal(1996)isolatedanovelhumancDNAwhichtheytermedadducinlike70Thepredictedaminoacidsequenceshowsahighdegreeofhomologytoadducins(alpha102680beta102681)Inhumanerythrocytesadducinisa200kDheterodimericskeletalcomponentofthecellmembranewhereitpromotesthebindingofspectrintoactinThisbindingisregulatedbycalcium/calmodulin(114180)AdducinalsoisphosphorylatedbyproteinkinaseCAdducinanditsmultipleisoformsrepresentafamilyofproteinspresentinavarietyoftissuesandculturedcelllinesincludingthosefrombrainkidneyandliverThegenesymbolizedhereADDLcontainsanopenreadingframeof2022nucleotidesencoding674aminoacidsItshows54%53%and59%identityinpredictedaminoacidsequencewithalphaandbetacomponentsofhumanadducinandratadducin63respectivelyKatagirietal(1996)statedthathumanadducinlike70islikelytoplayanimportantroleintheskeletalorganizationofthecellmembraneNorthernblotanalysisindicatedubiquitousexpressionofthisgeneinadulthumantissuesInacomprehensiveassayofgeneexpressionGilliganetal(1999)showedtheubiquitousexpressionofalphaandgammaadducinincontrasttotherestrictedexpressionofbetaadducinBetaadducinwasexpressedathighlevelsinbrainandhematopoietictissues(bonemarrowinhumansspleeninmice)Katagirietal(1996)localizedthegeneto10q242q243byfluorescenceinsituhybridizationLahortigaetal(2003)describedatranslocationt(1011)(q25p15)whichresultedinfusionoftheADD3genetotheNUP98gene(601021)onchromosome11p15anddevelopmentofTcellacutelymphoblasticleukemiaREFERENCES1GilliganDMLozovatskyLGwynnBBrugnaraCMohandasNPetersLLTargeteddisruptionofthebetaadducingene(Add2)causesredbloodcellspherocytosisinmiceProcNatAcadSci9610717107221999PubMedID104858922KatagiriTOzakiKFujiwaraTShimizuFKawaiAOkunoSSuzukiMNakamuraYTakahashiEHiraiYCloningexpressionandchromosomemappingofadducinlike70(ADDL)ahumancDNAhighlyhomologoustohumanerythrocyteadducinCytogenetCellGenet7490951996PubMedID88938093LahortigaIVizmanosJLAgirreXVazquezICigudosaJCLarrayozMJSalaFGorosquietaAPerezEquizaKCalasanzMJOderoMDNUP98isfusedtoAdducin3inapatientwithTcellacutelymphoblasticleukemiaandmyeloidmarkerswithanewtranslocationt(1011)(q25p15)CancerRes63307930832003PubMedID12810632CONTRIBUTORSVictorAMcKusickupdated9/4/2003VictorAMcKusickupdated11/8/1999CREATIONDATEVictorAMcKusick12/13/1996EDITHISTORYwwang3/2/2007joanna3/17/2004cwells9/8/2003terry9/4/2003mgross11/8/1999carol2/18/1999jenny12/17/1996jenny12/16/1996mark12/13/1996Copyright©19662007JohnsHopkinsUniversityDisplayTitlesDetailedClinicalSynopsisAllelicVariantsASN1XMLLinkOutRelatedEntriesBookLinksGeneLinksGenomeLinksGEOProfileLinksHomoloGeneLinksNucleotideLinksOMIALinksPubChemBioAssayLinksPMCLinksProteinLinksPubMed(calculated)LinksPubMed(cited)LinksSNPLinksGeneGenotypeLinksStructureLinksUniGeneLinksUniSTSLinksShow5102050100200500SendtoTextFilePrinterClipboardDisclaimerWritetotheHelpDeskPrivacyPolicyNCBINLMNIH