GFAP

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.

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.

Phosphorylated by PKN1.

Belongs to the intermediate filament family.

Expressed in cells lacking fibronectin.

• Cytoplasm
• Associated with intermediate filaments.

Glial fibrillary acidic protein, GFAP

• entrezGene:2670
• omim:137780
• swissprot:P14136

Proteins

Research Tools

• Cardiovascular

49880Da