| Primary Identifier | MGI:1341830 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 13666 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables identical protein binding activity; misfolded protein binding activity; and protein kinase activity. Involved in several processes, including PERK-mediated unfolded protein response; protein phosphorylation; and regulation of gene expression. Acts upstream of or within several processes, including intracellular signal transduction; regulation of apoptotic process; and regulation of primary metabolic process. Located in endoplasmic reticulum membrane and endoplasmic reticulum quality control compartment. Is expressed in several structures, including cerebral cortex; eye; liver; pancreas tip epithelium; and tooth. Used to study Wolcott-Rallison syndrome. Human ortholog(s) of this gene implicated in Wolcott-Rallison syndrome and type 1 diabetes mellitus. Orthologous to human EIF2AK3 (eukaryotic translation initiation factor 2 alpha kinase 3). PHENOTYPE: Homozygous mutant mice develop exocrine pancreatic insufficiency and progressive diabetes mellitus. They are growth retarded, hyperglycemic, exhibit increased cell death in the pancreas, have decreased numbers of pancreatic beta cells and about half diebefore weaning. [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
