| Primary Identifier | MGI:2141101 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 277854 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to enable small GTPase binding activity. Predicted to contribute to GTPase activator activity. Predicted to be involved in cellular response to amino acid starvation; negative regulation of TORC1 signaling; and positive regulation of autophagy. Located in cytosol and perinuclear region of cytoplasm. Is expressed in branchial arch; genitourinary system; limb; and peripheral nervous system. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy and focal epilepsy. Orthologous to human DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit). PHENOTYPE: Mice homozygous for a knock-out allele exhibit preweaning lethality. Mice homozygous for a conditional allele activated in neurons exhibit reduced body weight, limb grasping, premature death, spontaneous seizure, increased brain size due to neuron hypertrophy and increased PTZ seizure susceptibility. [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
