| Primary Identifier | MGI:1914482 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 56032 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to contribute to GTPase activator activity. Involved in cellular response to amino acid starvation and negative regulation of TORC1 signaling. Predicted to be part of GATOR1 complex. Predicted to be active in lysosomal membrane. Is expressed in liver. Human ortholog(s) of this gene implicated in familial focal epilepsy with variable foci 2. Orthologous to human NPRL2 (NPR2 like, GATOR1 complex subunit). PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced embryo size, microphthalmia, occaional anophthalmia, pale liver, reduced fetal liver hematopoiesis, impaired erythropoiesis and reduced methionine synthesis. [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
