Tbc1d24 - TBC1 domain family, member 24 Gene
Also Known as mKIAA1171; 9630033P11; C530046L02Rik
Species: Mus musculus
Summary
Predicted to enable GTPase activator activity. Acts upstream of or within several processes, including negative regulation of oxidative stress-induced neuron death; negative regulation of peptidyl-cysteine S-nitrosylation; and neuron projection development. Predicted to be located in cell junction and cytoplasm. Predicted to be active in neuromuscular junction and plasma membrane. Is expressed in several structures, including central nervous system; genitourinary system; 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, Apr 2022]
Tbc1d24 Products (8)
| mRNA | Protein | Name |
|---|---|---|
| NM_001163847.1 | NP_001157319.1 | TBC1 domain family member 24 isoform a |
| NM_001163848.1 | NP_001157320.1 | TBC1 domain family member 24 isoform a |
| NM_001163849.1 | NP_001157321.1 | TBC1 domain family member 24 isoform a |
| NM_001163850.1 | NP_001157322.1 | TBC1 domain family member 24 isoform b |
| NM_001163851.1 | NP_001157323.1 | TBC1 domain family member 24 isoform b |
| NM_001163852.1 | NP_001157324.1 | TBC1 domain family member 24 isoform b |
| NM_001163853.1 | NP_001157325.1 | TBC1 domain family member 24 isoform b |
| NM_173186.4 | NP_775278.3 | TBC1 domain family member 24 isoform b |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within axon development |
IMP
IMP: Inferred from mutant phenotype
|
30335140 | MGI |
| acts upstream of or within cellular response to oxidative stress |
IMP
IMP: Inferred from mutant phenotype
|
30335140 | MGI |
| acts upstream of or within dendrite development |
IMP
IMP: Inferred from mutant phenotype
|
30335140 | MGI |
| acts upstream of or within negative regulation of cellular response to oxidative stress |
IDA
IDA: Inferred from direct assay
|
26668325 | MGI |
| acts upstream of or within negative regulation of peptidyl-cysteine S-nitrosylation |
IDA
IDA: Inferred from direct assay
|
26668325 | MGI |
| acts upstream of or within neuron projection development |
IMP
IMP: Inferred from mutant phenotype
|
30335140 | MGI |
| acts upstream of or within synaptic vesicle endocytosis |
IMP
IMP: Inferred from mutant phenotype
|
30335140 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
TBC1 domain family member 24 |
|