| Primary Identifier | MGI:95300 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 13667 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable translation initiation factor binding activity. Predicted to contribute to guanyl-nucleotide exchange factor activity and translation initiation factor activity. Predicted to be involved in several processes, including T cell receptor signaling pathway; nervous system development; and response to glucose. Predicted to be located in cytoplasm. Predicted to be part of eukaryotic translation initiation factor 2B complex. Is expressed in several structures, including adipose tissue; brain; eye; gut gland; and male reproductive gland or organ. Used to study leukoencephalopathy with vanishing white matter. Human ortholog(s) of this gene implicated in leukoencephalopathy with vanishing white matter 4. Orthologous to human EIF2B4 (eukaryotic translation initiation factor 2B subunit delta). PHENOTYPE: Mice homozygous for a single point mutation exhibit decreased body weight, progressive ataxia, sporadic seizures, clinical features of vanishing cerebellum white matter, abnormal white matter astrocytes, retinal laminar disorganization, and premature death. [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
