| Primary Identifier | MGI:2443456 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 224617 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable GTPase activator activity. Acts upstream of or within several processes, including negative regulation of cellular response to oxidative stress; negative regulation of peptidyl-cysteine S-nitrosylation; and neuron projection development. Predicted to be located in cytoplasm; neuromuscular junction; and terminal bouton. Predicted to be active in plasma membrane. Is expressed in several structures, including central nervous system; male reproductive gland or organ; olfactory epithelium; retina; and spleen. Used to study developmental and epileptic encephalopathy 16. Human ortholog(s) of this gene implicated in DOORS syndrome; epilepsy (multiple); and nonsyndromic deafness (multiple). Orthologous to human TBC1D24 (TBC1 domain family member 24). PHENOTYPE: Mice heterozygous for a knock-out allele show altered primary neuron maturation and survival, impaired endocytosis and an enlarged endosomal compartment in neurons, and a decrease in spontaneous neurotransmission. [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
