GFAP
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.
Full Name
Glial Fibrillary Acidic Protein
Alternative Names
Glial Fibrillary Acidic Protein; Intermediate Filament Protein; ALXDRD;
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.
Biological Process
Astrocyte development Source: Ensembl
Bergmann glial cell differentiation Source: Ensembl
D-aspartate import across plasma membrane Source: Ensembl
Extracellular matrix organization Source: Ensembl
Gene expression Source: Ensembl
Intermediate filament organization Source: UniProtKB
Intracellular protein transport Source: Ensembl
Long-term synaptic potentiation Source: Ensembl
Negative regulation of neuron projection development Source: Ensembl
Neuron projection regeneration Source: Ensembl
Positive regulation of Schwann cell proliferation Source: Ensembl
Regulation of chaperone-mediated autophagy Source: ParkinsonsUK-UCL
Regulation of neurotransmitter uptake Source: Ensembl
Regulation of protein-containing complex assembly Source: ParkinsonsUK-UCL
Response to wounding Source: Ensembl
Cellular Location
Cytoplasm. Associated with intermediate filaments.
Involvement in disease
Alexander disease (ALXDRD):
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.
PTM
Phosphorylated by PKN1.
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Datasheet