External Ids for GFAP Gene
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]
GeneCards Summary for GFAP Gene
GFAP (Glial Fibrillary Acidic Protein) is a Protein Coding gene. Diseases associated with GFAP include papillary ependymoma and ring chromosome 7. Among its related pathways are PI-3K cascade and Signaling by GPCR. GO annotations related to this gene include structural constituent of cytoskeleton and kinase binding. An important paralog of this gene is LMNB2.
UniProtKB/Swiss-Prot for GFAP Gene
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