| Primary Identifier | MGI:104990 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 14629 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables glutamate-cysteine ligase activity. Acts upstream of or within several processes, including glutathione biosynthetic process; negative regulation of apoptotic signaling pathway; and regulation of protein metabolic process. Located in cytosol. Part of glutamate-cysteine ligase complex. Is expressed in several structures, including alimentary system; central nervous system; integumental system; metanephros; and sensory organ. Used to study cataract. Human ortholog(s) of this gene implicated in congenital nonspherocytic hemolytic anemia 7; cystic fibrosis; hemolytic anemia; and myocardial infarction. Orthologous to human GCLC (glutamate-cysteine ligase catalytic subunit). PHENOTYPE: Homozygous mutant mice are embryonic lethal. One model shows lethality before E13 while another shows lethality between E7.5-E8.5. In this second model, embryos are arrested at the egg cylinder stage, fail to gastrulate, do not form mesoderm, and exhibitincreased apoptosis. [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
