| Primary Identifier | MGI:3033336 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 230676 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in negative regulation of TORC1 signaling; regulation of superoxide dismutase activity; and response to nutrient levels. Acts upstream of or within central nervous system development; pigmentation; and post-embryonic development. Located in peroxisome. Is expressed in several structures, including central nervous system; heart; lung; metanephros; and spleen. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 18. Orthologous to human SZT2 (SZT2 subunit of KICSTOR complex). PHENOTYPE: Mice homozygous for mutations in this gene display increased susceptibility to induced seizures. Mice homozygous for null mutations also display partial penetrance of prenatal lethality. [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
