Gene Symbol | GFAP |
Entrez Gene ID | 2670 |
Full Name | glial fibrillary acidic protein |
Synonyms | ALXDRD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Alexander disease, 203450 (3) |