Immunogen | Purifiedglialfilament(1). |
Clone | cloneGA5 |
Concentration | PleaserefertotheCertificateofAnalysisforthelot-specificconcentration. |
Host | Mouse |
Specificity | TheantibodyreactswithGFAPfromhuman,pig,chickenandrat.IntissuesectionsthisantibodystainsastrocytesandBergmangliacells(1). |
Isotype | IgG1 |
SpeciesReactivity | |
AntibodyType | MonoclonalAntibody |
EntrezGeneNumber | |
EntrezGeneSummary | Thisgeneencodesoneofthemajorintermediatefilamentproteinsofmatureastrocytes.ItisusedasaMarkertodistinguishastrocytesfromotherglialcellsduringdevelopment.MutationsinthisgenecauseAlexanderdisease,araredisorderofastrocytesinthecentralnervoussystem.Anadditionaltranscriptvarianthasbeendescribed,butitsfulllengthsequencehasnotbeendetermined. |
GeneSymbol | |
UniProtNumber | |
UniProtSummary | FUNCTION:SwissProt:P14136#GFAP,aclass-IIIintermediatefilament,isacell-specificmarkerthat,duringthedevelopmentofthecentralnervoussystem,distinguishesastrocytesfromotherglialcells. SIZE:432aminoacids;49880Da SUBUNIT:Isoform3interactswithN-terminusofPSEN1. SUBCELLULARLOCATION:Cytoplasm.Note=Associatedwithintermediatefilaments. DISEASE:SwissProt:P14136#DefectsinGFAPareacauseofAlexanderdisease[MIM:203450].Alexanderdiseaseisararedisorderofthecentralnervoussystem.ItisaprogressiveleukoencephalopathywhosehallmarkisthewidespreadaccumulationofRosenthalfiberswhicharecytoplasmicinclusionsinastrocytes.Themostcommonformaffectsinfantsandyoungchildren,andischaracterizedbyprogressivefailureofcentralmyelination,usuallyleADIngtodeathusuallywithinthefirstdecade.InfantswithAlexanderdiseasedevelopaleukoencephalopathywithmacrocephaly,seizures,andpsychomotorretardation.Patientswithjuvenileoradultformstypicallyexperienceataxia,bulbarsignsandspasticity,andamoreslowlyprogressivecourse. SIMILARITY:SwissProt:P14136##Belongstotheintermediatefilamentfamily. |