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.
Pathway
Nuclear signaling by ERBB4, organism-specific biosystem; Signal Transduction, organism-specific biosystem; Signaling by ERBB4, organism-specific biosystem;
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