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. |