| Type | Description |
|---|---|
| Definition | TBC1 domain family member 24 |
| Date | Results | Publications |
|---|---|---|
| 2021-01-16 15:54:00 | TBC1D24 regulates recycling of clathrin-independent cargo proteins mediated by tubular recycling endosomes. | 32475639 |
| 2020-09-12 15:57:00 | TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neurons. | 30858606 |
| 2020-05-23 12:06:00 | In a Drosophila model neuronally expressing human TBC1D24, the TBC1D24G501R TLDc mutation causes activity-induced locomotion and synaptic vesicle trafficking defects, but TBC1D24R360H is benign. The phenotypes of the TBC1D24G501R mutation are consistent with oxidative stress sensitivity, rescued by antioxidants. TLDc domain mutations of TBC1D24 cause Rolandic-type focal motor epilepsy and exercise-induced dystonia. | 31257402 |
| 2020-01-25 11:45:00 | Multifocal myoclonus, epilepsia partialis continua (EPC), and fever-induced seizures were the most prominent features of epilepsy patients with TBC1D24 mutations. The best therapeutic strategy to terminate EPC might be using chloral hydrate to induce sleep and control the infection and temperature. Hearing loss and abnormal brain MRIs might exacerbate the condition during follow-up. | 31112829 |
| 2019-09-07 11:06:00 | eight individuals with epilepsy and developmental delay who share overlapping microdeletions at 16p13.3 including TBC1D24, ATP6V0C, and PDPK1 | 30245510 |
| Type | IDs |
|---|---|
| Synonymous | DFNA65, DFNB86, DOORS, EIEE16, FIME, TLDC6 |
| Gene |
UniProtKB-ID:
TBC24_HUMAN
UniprotKB:
Q9ULP9
UniParc:
UPI000068F51B,
UPI000041A97A
EMBL:
BC127015,
AB032997,
BC127014,
AB449911,
BC112389
Ensembl:
ENSG00000162065
KO:
hsa:57465
|
| Nucleutide sequences |
EMBL-CDS:
BAH16654.1,
AAI12390.1,
BAA86485.1,
AAI27016.1,
AAI27015.1
Ensembl_TRS:
ENST00000567020,
ENST00000569874,
ENST00000627285,
ENST00000646147
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000454408,
ENSP00000486121,
ENSP00000494678,
ENSP00000455005
RefSeq:
XP_016878983.1,
XP_016878982.1,
NP_001186036.1,
NP_065756.1,
XP_016878984.1
|
| Others |
UniRef100:
UniRef100_Q9ULP9
UniRef90:
UniRef90_Q9ULP9
UniRef50:
UniRef50_Q9ULP9
UniGene:
Hs.353087
CCDS:
CCDS42107.1,
CCDS55980.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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