GFAP phospho S13
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.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated by PKN1.
Sequence Similarities
Belongs to the intermediate filament family.
Tissue Specificity
Expressed in cells lacking fibronectin.
Cellular localization
- Cytoplasm
- Associated with intermediate filaments.
Alternative names
Glial fibrillary acidic protein, GFAP