OMIMOnlineMendelianInheritanceinManAll DatabasesPubMedNucleotideProteinGenomeStructurePMCTaxonomyOMIM SearchPubMedProteinNucleotideCoreNucleotideGSSESTStructureGenomeBooksCancerChromosomesConservedDomainsdbGaP3DDomainsGeneGenomeProjectGENSATGEOProfilesGEODataSetsHomoloGeneJournalsMeSHNCBIWebSiteNLMCatalogOMIAOMIMPMCPopSetProbeProteinClustersPubChemBioAssayPubChemCompoundPubChemSubstanceSNPTaxonomyToolKitUniGeneUniSTSLimitsPreview/IndexHistoryClipboardDetailsDisplayTitlesDetailedClinicalSynopsisAllelicVariantsASN1XMLLinkOutRelatedEntriesBookLinksGeneLinksGenomeLinksGEOProfileLinksHomoloGeneLinksNucleotideLinksOMIALinksPubChemBioAssayLinksPMCLinksProteinLinksPubMed(calculated)LinksPubMed(cited)LinksSNPLinksGeneGenotypeLinksStructureLinksUniGeneLinksUniSTSLinksShow5102050100200500SendtoTextFilePrinterClipboardAll1OMIMdbSNP0OMIMUniSTS0*605104LinksATAXIN2BINDINGPROTEIN1AlternativetitlessymbolsA2BP1TEXTSpinocerebellarataxiatype2(SCA2183090)iscausedbyexpansionofapolyglutaminetractinataxin2(601517)Usingayeast2hybridsystemShibataetal(2000)identifiedanovelproteinA2BP1(ataxin2bindingprotein1)whichbindstotheCterminusofataxin2The377aminoacidcodingsequencecontainsanRNPmotifthatishighlyconservedamongRNAbindingproteinsNorthernblotanalysisshowedthatA2BP1waspredominantlyexpressedinmuscleandbrainEvidenceforatleast3isoformswasdetectedByimmunofluorescentstainingA2BP1andataxin2werebothlocalizedtothetransGolginetworkImmunocytochemistryshowedthatA2BP1wasexpressedinthecytoplasmofPurkinjecellsanddentateneuronsinapunctatepatternsimilartothatseenforataxin2labelingWesternblotanalysisofsubcellularfractionsindicatedenrichmentofA2BP1inthesamefractionsasataxin2TheauthorsconcludedthatA2BP1andrelatedproteinsformanovelgenefamilysharingRNAbindingmotifsBhallaetal(2004)described2patientswithabnormalphenotypescharacterizedpredominantlybyepilepsyinoneandbymentalretardationintheotherwhocarrieddenovotranslocationsofchromosome16t(1416)andt(116)respectivelyThemappingwasconfirmedbyFISHofclonesthatspannedthebreakpointstometaphasespreadsderivedfromthepatientsTheauthorsfoundthatthe16p133breakpointsofthe2translocationsdisruptedtheA2BP1genewhichencompassesalargegenomicregionof17MbBhallaetal(2004)proposedthatdisruptionoftheA2BP1genewasacauseoftheabnormalphenotypesofthe2patientsNomutationswerefoundintheA2BP1genein96patientswithsporadicepilepsyand96femalepatientswithmentalretardationscreenedbySSCPsuggestingthatdisruptionoftheA2BP1geneisnotacommoncauseofsporadicepilepsyormentalretardationREFERENCES1BhallaKPhillipsHACrawfordJMcKenzieOLDMulleyJCEyreHGardnerAEKremmidiotisGCallenDFThedenovochromosome16translocationsoftwopatientswithabnormalphenotypes(mentalretardationandepilepsy)disrupttheA2BP1geneJHumGenet493083112004PubMedID151485872ShibataHHuynhDPPulstSMAnovelproteinwithRNAbindingmotifsinteractswithataxin2HumMolecGenet9130313132000PubMedID10814712CONTRIBUTORSVictorAMcKusickupdated7/9/2004CREATIONDATEGeorgeETiller6/30/2000EDITHISTORYtkritzer7/14/2004terry7/9/2004alopez6/30/2000alopez6/30/2000Copyright©19662007JohnsHopkinsUniversityDisplayTitlesDetailedClinicalSynopsisAllelicVariantsASN1XMLLinkOutRelatedEntriesBookLinksGeneLinksGenomeLinksGEOProfileLinksHomoloGeneLinksNucleotideLinksOMIALinksPubChemBioAssayLinksPMCLinksProteinLinksPubMed(calculated)LinksPubMed(cited)LinksSNPLinksGeneGenotypeLinksStructureLinksUniGeneLinksUniSTSLinksShow5102050100200500SendtoTextFilePrinterClipboardDisclaimerWritetotheHelpDeskPrivacyPolicyNCBINLMNIH