GFAP, Official Symbol GFAPprovided by HGNC Official Full Name glial fibrillary acidic proteinprovided by HGNC Primary source HGNC:HGNC:4235 See related Ensembl:ENSG00000131095 MIM:137780; AllianceGenome:HGNC:4235 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ALXDRD 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] Expression Restricted expression toward brain (RPKM 1208.4) See more Orthologs mouse all