免 疫 原:Recombinant mouse GFAP full length
SWISS:P14136
Gene ID :2670
Human Gene ID:2670
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:Interacts with SYNM. Isoform 3 interacts with PSEN1 (via N-terminus).
Subcellular Location:Cytoplasm. Note=Associated with intermediate filaments.
Tissue Specificity:Expressed in cells lacking fibronectin.
Post-translational modifications:Phosphorylated by PKN1.
DISEASE:Defects in GFAP are a cause of Alexander disease (ALEXD) [MIM:203450]. Alexander disease is a rare disorder of the central nervous system. It is a progressive leukoencephalopathy whose hallmark is the widespread accumulation of Rosenthal fibers which are
Similarity:Belongs to the intermediate filament family.
Important Note:This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.