| 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 7.0.0) Involved in negative regulation of TORC1 signaling 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
