GFAP Antibody – Rabbit Polyclonal

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. [provided by RefSeq, Oct 2008]

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.

Subunit structure: Interacts with SYNM

By similarity. Isoform 3 interacts with PSEN1 (via N-terminus). Ref.16

Subcellular location: Cytoplasm. Note: Associated with intermediate filaments. Ref.16

Tissue specificity: Expressed in cells lacking fibronectin. Ref.3

Post-translational modification: Phosphorylated by PKN1. Ref.18 Ref.19 Ref.20

Involvement in disease: Alexander disease (ALEXD) [MIM:203450]: 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.21 Ref.22 Ref.23 Ref.24 Ref.25 Ref.26

Sequence similarities: Belongs to the intermediate filament family.