GFAP è un gene codificato dal simbolo GFAP. È noto anche come Glial fibrillary acidic protein. GFAP ha una massa di 49.88kDa, una lunghezza di amminoacidi di 432, ed è implicato in Alexander disease.
Offriamo 9 proteine GFAP
Informazioni su geni e proteine
Riepilogo 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.
Sommario di 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.
Specificità del tessuto
Expressed in cells lacking fibronectin.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the intermediate filament family.
Modifica post-translazionale
Phosphorylated by PKN1.
Posizione cellulare
Cytoplasm.
Associated with intermediate filaments.
