| GFAP |
| LOCUS ID | 2670 | |||||||||||||
| GENE_SYMBOL | GFAP | |||||||||||||
| GENE NAME | glial fibrillary aci | |||||||||||||
| SYNONYMNS | ALXDRD | |||||||||||||
| CHROMOSOME | 17 | |||||||||||||
| HOMOLOGENE ID | 1554 |
| microRNAs | NA | NA |
| GENE 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. Altertive splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] |
| OBSERVATIONS |
|---|
| Complication | Evidence | PMID |
| Neuropathy | 1. Diabetic mice, known to have much lower aldose reductase activity in other tissues when compared with rats, did not accumulate sorbitol and fructose in the retina and were protected from neuronal apoptosis and GFAP changes in the presence of GHb levels of 14 +/- 2%. c | 12540628 |
| Retinopathy | ZDF rats were observed to be diabetic from week 9 and by week 24. These animals showed retinal morphologic degenerative changes, increased neuro-retinal thickness, and decreased number of nuclei. Glial cells activation with massive GFAP upregulation was present. | 28973338 |