Alternative products:Isoforms differ in the C-terminal region which is encoded by alternative exons ,Disease:Defects in GFAP are a cause of Alexander disease (ALEXD) [MIM:203450]. Alexander disease is a rare disorder of the central nervous system. It is a progressive leukoencephalopathy whose hallmark is the widespread accumulation of Rosenthal fibers which are cytoplasmic inclusions in astrocytes. The most common form affects infants and young children , and is characterized by progressive failure of central myelination , usually leading to death usually within the first decade. Infants with Alexander disease develop a leukoencephalopathy with macrocephaly , seizures , and psychomotor retardation. Patients with juvenile or adult forms typically experience ataxia , bulbar signs and spasticity , and a more slowly progressive course. ,Function:GFAP , a class-III intermediate filament , is a cell-specific marker that , during the development of the central nervous system , distinguishes astrocytes from other glial cells. ,online information:GFAP entry ,similarity:Belongs to the intermediate filament family. ,subcellular location:Associated with intermediate filaments. ,subunit:Interacts with SYNM (By similarity) . Isoform 3 interacts with PSEN1 (via N-terminus) . ,tissue specificity:Expressed in cells lacking fibronectin. ,
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