TBC1D24 Gene Summary [Human]
This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]
Details
| Type | Protein Coding |
| Official Symbol | TBC1D24 |
| Official Name | TBC1 domain family member 24 [Source:HGNC Symbol;Acc:HGNC:29203] |
| Ensembl ID | ENSG00000162065 |
| Bio databases IDs | |
| Aliases | TBC1 domain family member 24, TBC/LysM-associated domain containing 6, skywalker homolog (Drosophila) |
| 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 | Human, Homo sapiens |
| 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 human 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 human 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