EntrezGeneSummary | Thisgeneencodespairedboxgene6,oneofmanyhumanhomologuesoftheDrosophilamelanogastergeneprd.Inadditiontothehallmarkfeatureofthisgenefamily,aconservedpairedboxdomain,theencodedproteinalsocontainsahomeoboxdomain.BothdomainsareknowntobindDNA,andfunctionasregulatorsofgenetranscription.Thisgeneisexpressedinthedevelopingnervoussystem,andindevelopingeyes.MutationsinthisgeneareknowntocauseaniridiaaswellasPeter"sanomaly,bothoculardiseases. |
UniProtSummary | FUNCTION:SwissProt:P26367#Transcriptionfactorwithimportantfunctionsinthedevelopmentoftheeye,nose,centralnervoussystemandpancreas.Requiredforthedifferentiationofpancreaticisletalphacells(Bysimilarity).CompeteswithPAX4inbindingtoacommonelementintheglucagon,insulinandsomatostatinpromoters.RegulatesspecificationoftheventralneuronsubtypesbyestablishingthecorrectProgenitordomains(Bysimilarity).Isoform5aappearstofunctionasamolecularswitchthatspecifiestargetgenes. SIZE:422aminoacids;46683Da SUBCELLULARLOCATION:Nucleus. TISSUESPECIFICITY:Fetaleye,brain,spinalcordandolfactoryepithelium.Isoform5aislessabundantthanthePAX6shorterform. DEVELOPMENTALSTAGE:Expressedinthedevelopingeyeandbrain. DISEASE:SwissProt:P26367#DefectsinPAX6arethecauseofaniridiatypeII(AN2)[MIM:106210].AN2isabilateralpanoculardisordercharacterizedbycompleteorpartialabsenceoftheiris,absenceofthefoveaandmalformationsofthelensandanteriorchamber.Severeage-relatedcornealdegenerationisafrequentcomplicationwhichcontributestoapoorvisualprognostisinaniridia.AboutonethirdofthecasesaresporADIc,andtwothirdsarefamilial,withautosomaldominantinheritanceandhighpenetrance.NearlyonethirdofsporadicANpatientsdevelopWilmstumorinassociationwithgenitourinaryanomaliesandmentalretardation(WAGRsyndrome)asaconsequenceofheterozygous(sub)microscopicdeletionsofchromosome11p13.&DefectsinPAX6areacauseofPetersanomaly[MIM:604229].Petersanomalyconsistsofacentralcornealleukoma,absenceoftheposteriorcornealstromaandDescemetmembrane,andavariabledegreeofirisandlenticularattachmentstothecentralaspectoftheposteriorcornea.&DefectsinPAX6areacauseofectopiapupillae[MIM:129750].Itisacongenitaleyemalformationinwhichthepupilsaredisplacedfromtheirnormalcentralposition.&DefectsinPAX6areacauseoffovealhypoplasia[MIM:136520].Fovealhypoplasiacanbeisolatedorassociatedwithpresenilecataract.Inheritanceisautosomaldominant.&DefectsinPAX6areacauseofautosomaldominantkeratitis[MIM:148190].Itisaneyedisordercharacterizedbycornealopacificationandvascularization,andbyfovealhypoplasia.&DefectsinPAX6areacauseofocularcoloboma[MIM:120200];alsoknownasuveoretinalcolobomaorcolobomaofiris,choroidandretina.Ocularcolobomasareasetofmalformationsresultingfromabnormalmorphogenesisoftheopticcupandstalk,andthefusionofthefetalfissure(opticfissure).Severecolobomatousmalformationsmaycauseasmuchas10%ofthechildhoodblindness.Theclinicalpresentationofocularcolobomaisvariable.Someindividualsmaypresentwithminimaldefectsintheanterioririsleafwithoutotheroculardefects.Morecomplexmalformationscreateacombinationofiris,uveoretinaland/oropticnervedefectswithoutorwithmicrophthalmiaorevenanophthalmia.&DefectsinPAX6areacauseofcolobomaofopticnerve[MIM:120430].&DefectsinPAX6areacauseofbilateralopticnervehypoplasia[MIM:165550];alsoknownasbilateralopticnerveaplasia.Inheritanceisautosomaldominant. SIMILARITY:SwissProt:P26367##Belongstothepairedhomeoboxfamily.&Contains1homeoboxDNA-bindingdomain.&Contains1paireddomain. |