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.... |