| Entrez Gene ID | 2670 |
|---|---|
| Official Gene Symbol | GFAP (GeneCards) |
| Full name | glial fibrillary acidic protein |
| Location | 17q21.31 |
| Other ids | Vega : OTTHUMG00000179866 MIM : 137780 HGNC : HGNC:4235 Ensembl : ENSG00000131095 |
| Other names | 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] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 29232 | 2670 | GFAP | 17 | 42988056 | 42988056 | Autism Spectrum Disorders | PASM |