Cell localization:Cytoplasm.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 resµLts in mµLtiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008],
