External Ids for GFAP Gene
Previous GeneCards Identifiers 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 alexander disease and alexander disease type ii. Among its related pathways are Signaling by GPCR and Interleukin receptor SHC signaling. GO annotations related to this gene include structural molecule activity and structural constituent of cytoskeleton. 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