Entrez Summary: 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].
UniProt Summary: N/A
Pfam DomainsGO Terms
Pfam Domains
Filament
GO Terms
regulation of chaperone-mediated autophagy
intermediate filament organization
intermediate filament cytoskeleton organization
intermediate filament-based process
structural constituent of cytoskeleton
intermediate filament
lysosome
regulation of autophagy
regulation of protein catabolic process
regulation of protein complex assembly
supramolecular fiber organization
regulation of cellular catabolic process
regulation of cellular component biogenesis
regulation of catabolic process
identical protein binding
cytoskeleton organization
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)