GFAP est un gène codé par le symbole GFAP. Il est également connu sous le nom de Glial fibrillary acidic protein. GFAP a une masse de 49.88kDa, une longueur d'acide aminé de 432, et est impliqué dans Alexander disease.
Nous proposons 9 GFAP protéines
Informations sur les Gènes et les Protéines
Résumé UniProt
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.
Résumé Entrez
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.
Spécificité tissulaire
Expressed in cells lacking fibronectin.
Implication dans la maladie
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.
Similitudes de séquence
Belongs to the intermediate filament family.
Modification post-traductionnelle
Phosphorylated by PKN1.
Localisation cellulaire
Cytoplasm.
Associated with intermediate filaments.
Liens de base de données
