| Primary Identifier | MGI:95697 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 14580 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) A structural constituent of cytoskeleton. Involved in regulation of chaperone-mediated autophagy. Acts upstream of or within with a positive effect on D-aspartate import across plasma membrane; gene expression; and intracellular protein transport. Acts upstream of or within several processes, including long-term synaptic potentiation; neurogenesis; and positive regulation of Schwann cell proliferation. Located in several cellular components, including astrocyte end-foot; cell body; and intermediate filament. Is expressed in several structures, including alimentary system; hemolymphoid system; integumental system; nervous system; and sensory organ. Used to study Alexander disease. Human ortholog(s) of this gene implicated in Alexander disease. Orthologous to human GFAP (glial fibrillary acidic protein). PHENOTYPE: Homozygotes for targeted null mutations show reduced astrocyte-associated intermediate filaments, enhanced long-term potentiation and impaired eye-blink conditioning. Aged mutants may show hydrocephaly, reduced myelination and impaired blood-brain barrier. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
