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possesses two functional nuclear localization signals

Mutations in this gene have been associated with chronic granulomatous disease

GFAP(Phospho Ser38) Polyclonal Antibody, 20ul Pipette Controller Enhance your research with ourThis 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.