GFAP

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
• GFAP

Database links

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

Target type

Proteins

Primary research area

Neuroscience

Other research areas

• Cardiovascular

Molecular weight

49880Da