GFAP ist ein Gen, das durch das Symbol GFAP kodiert wird. Es ist auch bekannt als Glial fibrillary acidic protein. GFAP hat eine Masse von 49.88kDa, eine Aminosäurelänge von 432, und ist an Alexander disease beteiligt.
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Gen- und Proteininformationen
UniProt Zusammenfassung
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.
Entrez Zusammenfassung
This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. Alternative splicing results in multiple transcript variants encoding distinct isoforms.
Gewebespezifität
Expressed in cells lacking fibronectin.
Rolle bei Krankheiten
Alexander disease: A rare disorder of the central nervous system. The most common form affects infants and young children, and is characterized by progressive failure of central myelination, usually leading to death within the first decade. Infants with Alexander disease develop a leukodystrophy 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. Histologically, Alexander disease is characterized by Rosenthal fibers, homogeneous eosinophilic inclusions in astrocytes.
Sequenzähnlichkeiten
Belongs to the intermediate filament family.
Posttranslationale Modifikation
Phosphorylated by PKN1.
Zellort
Cytoplasm.
Associated with intermediate filaments.
