OMIMOnlineMendelianInheritanceinManAll DatabasesPubMedNucleotideProteinGenomeStructurePMCTaxonomyOMIM SearchPubMedProteinNucleotideCoreNucleotideGSSESTStructureGenomeBooksCancerChromosomesConservedDomainsdbGaP3DDomainsGeneGenomeProjectGENSATGEOProfilesGEODataSetsHomoloGeneJournalsMeSHNCBIWebSiteNLMCatalogOMIAOMIMPMCPopSetProbeProteinClustersPubChemBioAssayPubChemCompoundPubChemSubstanceSNPTaxonomyToolKitUniGeneUniSTSforLimitsPreview/IndexHistoryClipboardDetailsDisplayTitlesDetailedClinicalSynopsisAllelicVariantsASN1XMLLinkOutRelatedEntriesBookLinksGeneLinksGenomeLinksGEOProfileLinksHomoloGeneLinksNucleotideLinksOMIALinksPubChemBioAssayLinksPMCLinksProteinLinksPubMed(calculated)LinksPubMed(cited)LinksSNPLinksGeneGenotypeLinksStructureLinksUniGeneLinksUniSTSLinksShow5102050100200500<>SendtoTextFilePrinterClipboardAll1OMIMdbSNP0OMIMUniSTS0*608922608922][GeneViewindbSNPhttp//wwwncbinlmnihgov/SNP/CGI/genesnpviewcgi?fromdb=omim&id=608922][UniGenehttp//wwwncbinlmnihgov/entrez/queryfcgi?itool=omim_Detailed&db=omim&cmd=Display&dopt=omim_unigene&from_uid=608922][RelatedEntrieshttp//wwwncbinlmnihgov/entrez/queryfcgi?itool=omim_Detailed&db=omim&cmd=Display&dopt=omim_omim&from_uid=608922][Nucleotidehttp//wwwncbinlmnihgov/entrez/queryfcgi?itool=omim_Detailed&db=omim&cmd=Display&dopt=omim_nucleotide&from_uid=608922][Proteinhttp//wwwncbinlmnihgov/entrez/queryfcgi?itool=omim_Detailed&db=omim&cmd=Display&dopt=omim_protein&from_uid=608922]]//>LinksARL2LIKEPROTEIN1ARL2L1Genemaplocus3p12q13TEXTCLONINGIntheprocessofpositionalcloningofthegeneresponsibleforBardetBiedlsyndrometype3(BBS3see209900)whichhasbeenmappedto3p12q13bylinkageanalysisFanetal(2004)identifiedagenewithasequencecloselyrelatedtothatofADPribosylationfactorlike2(ARL2601175)TheycalleditARL2likeprotein1(ARL2L1)Fanetal(2004)determinedthattheCelegansARL2L1orthologisexpressedinciliatedcellsTheyfoundnomutationsinARL2L1infamilieswithBBS3MAPPINGFanetal(2004)foundtheARL2L1genewithintheBBS3criticalintervalon3p12q13REFERENCES1FanYEsmailMAAnsleySJBlacqueOEBoroevichKRossAJMooreSJBadanoJLMaySimeraHComptonDSGreenJSLewisRAvanHaelstMMParfreyPSBaillieDLBealesPLKatsanisNDavidsonWSLerouxMRMutationsinamemberoftheRassuperfamilyofsmallGTPbindingproteinscausesBardetBiedlsyndromeNatureGenet369899932004PubMedID15314642CREATIONDATEVictorAMcKusick9/14/2004EDITHISTORYalopez12/16/2005alopez9/14/2004Copyright©19662007JohnsHopkinsUniversityDisplayTitlesDetailedClinicalSynopsisAllelicVariantsASN1XMLLinkOutRelatedEntriesBookLinksGeneLinksGenomeLinksGEOProfileLinksHomoloGeneLinksNucleotideLinksOMIALinksPubChemBioAssayLinksPMCLinksProteinLinksPubMed(calculated)LinksPubMed(cited)LinksSNPLinksGeneGenotypeLinksStructureLinksUniGeneLinksUniSTSLinksShow5102050100200500<>SendtoTextFilePrinterClipboardDisclaimerWritetotheHelpDeskPrivacyPolicyNCBINLMNIH