Proteins Glial Fibrillary Acidic Protein (GFAP)
Glial Fibrillary Acidic Protein (GFAP)
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UniProt Number:
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P14136
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Alternate Names:
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Glial Fibrillary Acidic Protein, GFAP, FLJ42474
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Structure and Function:
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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.
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Disease Associations:
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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.
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Monoclonal Antibodies
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