| Primary Identifier | MGI:2446176 | Organism | mouse, laboratory |
| Chromosome | 16 | NCBI Gene Number | 224045 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable guanyl-nucleotide exchange factor activity; translation initiation factor activity; and translation initiation factor binding activity. Predicted to be involved in several processes, including T cell receptor signaling pathway; glial cell development; and positive regulation of translational initiation. Located in cytoplasm and nucleus. Is expressed in central nervous system and retina. Used to study leukoencephalopathy with vanishing white matter. Human ortholog(s) of this gene implicated in leukoencephalopathy with vanishing white matter and leukoencephalopathy with vanishing white matter 5. Orthologous to human EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon). PHENOTYPE: Mice homozygous for a knock-in allele exhibit abnormal brain white matter development, decreased body fat, demyelination, impaired recovery from cuprizone-induced demyelination, and impaired coordination. [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
