| 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.... |