P14136
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
glial fibrillary acidic protein
NCBI Official Synonym Full Names
glial fibrillary acidic protein
NCBI Protein Information
glial fibrillary acidic protein
UniProt Protein Name
Glial fibrillary acidic protein
UniProt Entry Name
GFAP_HUMAN
NCBI Summary for GFAP
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]
UniProt Comments for 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.
Subunit structure: Interacts with SYNM
By similarity. Isoform 3 interacts with PSEN1 (via N-terminus). Ref.15
Subcellular location: Cytoplasm. Note: Associated with intermediate filaments. Ref.15
Tissue specificity: Expressed in cells lacking fibronectin. Ref.3
Post-translational modification: Phosphorylated by PKN1. Ref.17
Involvement in 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 cytoplasmic inclusions in astrocytes. The most common form affects infants and young children, and is characterized by progressive failure of central myelination, usually leading to death usually within the first decade. Infants with Alexander disease develop a leukoencephalopathy 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. Ref.19 Ref.20 Ref.21 Ref.22 Ref.23 Ref.24
Sequence similarities: Belongs to the intermediate filament family.
Product References and Citations for anti-GFAP antibody
1) Lukas, Z. et al. 1989. Expression of vimentin and glial fibrillary acid protein in human developing spinal cord. Histochem. J. 21:693. 3) Brenner, M. et al. 2001. Mutations in GFAP, encoding glial fibrillary acid protein, are associated with Alexander's Disease. Nat. Genet. 7:118-120.
Research Articles on GFAP
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Products associated with anti-GFAP antibody
Pathways associated with anti-GFAP antibody
Diseases associated with anti-GFAP antibody
Organs/Tissues associated with anti-GFAP antibody
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