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]
Pathway
Neural Crest Differentiation; Nuclear signaling by ERBB4; Signal Transduction; Signaling by ERBB4; Spinal Cord Injury;
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