Tbc1d24 Gene Summary [Mouse]
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). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Tbc1d24 |
| Official Name | TBC1 domain family, member 24 [Source:MGI Symbol;Acc:MGI:2443456] |
| Ensembl ID | ENSMUSG00000036473 |
| Bio databases IDs | |
| Aliases | TBC1 domain family, member 24 |
| Synonyms | 9630033P11, C530046L02Rik, DEE16, DFNA65, DFNB86, DOORS, EIEE16, EIM, EPRPDC, FIME, KIAA1171, mKIAA1171, RGD1306143, TBC1 domain family member 24, TBC1 domain family, member 24, TLDC6 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Tbc1d24 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Rab-GTPase-TBC domain
- TLD
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- progressive myoclonic epilepsy type 1B
- autosomal recessive deafness type 86
- sporadic age-related sensorineural hearing loss
- early infantile epileptic encephalopathy type 16
- autosomal dominant deafness type 65
- deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome
- parkinsonism
- age-related hearing loss
- hereditary disorder
- infantile myoclonic epilepsy
regulated by
- mitomycin C
- E6
role in cell
- cell death
- migration
- formation
- outgrowth
- development
- morphogenesis
- response by
- migration by
- maturation
- endocytosis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cell junction
- Plasma Membrane
- neuromuscular junctions
- axon terminals
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Tbc1d24 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of cellular response to oxidative stress
- neuron projection development
- synaptic vesicle endocytosis
- cellular response to oxidative stress
- positive regulation of excitatory postsynaptic membrane potential
- positive regulation of dendrite morphogenesis
- dendrite development
- positive regulation of neuron migration
Cellular Component
Where in the cell the gene product is active
- cytoplasmic vesicle membrane
- cytoplasm
- terminal button
- cell junction
- neuromuscular junction
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- GTPase activator activity