UniProtSummary | FUNCTION:GFAP,aclass-IIIintermediatefilament,isacell-specificmarkerthat,duringthedevelopmentofthecentralnervoussystem,distinguishesastrocytesfromotherglialcells. SUBUNITSTRUCTURE:InteractswithSYNMBysimilarity.Isoform3interactswithPSEN1(viaN-terminus). SUBCELLULARLOCATION:Cytoplasm.Note:Associatedwithintermediatefilaments. TISSUESPECIFICITY:Expressedincellslackingfibronectin. INVOLVEMENTINDISEASE:DefectsinGFAPareacauseofAlexanderdisease(ALEXD)[MIM:203450].Alexanderdiseaseisararedisorderofthecentralnervoussystem.ItisaprogressiveleukoencephalopathywhosehallmarkisthewidespreadaccumulationofRosenthalfiberswhicharecytoplasmicinclusionsinastrocytes.Themostcommonformaffectsinfantsandyoungchildren,andischaracterizedbyprogressivefailureofcentralmyelination,usuallyleADIngtodeathusuallywithinthefirstdecade.InfantswithAlexanderdiseasedevelopaleukoencephalopathywithmacrocephaly,seizures,andpsychomotorretardation.Patientswithjuvenileoradultformstypicallyexperienceataxia,bulbarsignsandspasticity,andamoreslowlyprogressivecourse. SEQUENCESIMILARITIES:Belongstotheintermediatefilamentfamily. |