Glial Fibrillary Acidic Protein (GFAP) Antibody – Monoclonal

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]

GFAP: a class-III intermediate filament protein. A cell-specific marker that, during the development of the central nervous system, distinguishes astrocytes from other glial cells. Mutations in this gene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. An additional transcript variant isoform has been described, but its full length sequence has not been determined.

Protein type: Cytoskeletal

Chromosomal Location of Human Ortholog: 17q21

Cellular Component: membrane; cytoplasm; intermediate filament; cytosol

Molecular Function: integrin binding; structural constituent of cytoskeleton; kinase binding

Biological Process: extracellular matrix organization and biogenesis; Bergmann glial cell differentiation; regulation of neurotransmitter uptake; response to wounding; neurite regeneration; intermediate filament organization; astrocyte development

Disease: Alexander Disease