Recombinant Human TBC1 domain family member 24 (TBC1D24)

1. TBC1d24-ephrinB2 interaction regulates contact inhibition of locomotion in neural crest cell migration PMID: 30154457
2. Silencing TBC1D24 inhibited MCF-7 cells growth in vitro and in vivo. TBC1D24 promoted breast carcinoma growth through the IGF1R/PI3K/AKT pathway. PMID: 29893377
3. We identified a homozygous single base alteration, c.1415 G>A;p.G428R, in TBC1D24 gene. This mutation was found in the proband's parents and elder sister as heterozygous. The c.1415G>A mutation has not been reported previously. The c.1415G>A was considered to be damaging by SIFT software PMID: 29176366
4. Here, we present a familial case of a lethal early-onset epileptic encephalopathy, associated with two novel compound heterozygous missense variants on the TBC1D24 gene, which were detected by exome sequencing PMID: 27541164
5. TBC1D24-related epilepsy syndromes show marked phenotypic pleiotropy, with multisystem involvement and severity spectrum ranging from isolated deafness (not studied here), benign myoclonic epilepsy restricted to childhood with complete seizure control and normal intellect, to early-onset epileptic encephalopathy with severe developmental delay and early death PMID: 27281533
6. TBC1D24-related epilepsy can manifest with hypotonia, developmental delays, and a variety of focal-onset seizures. PMID: 27502353
7. mutations in TBC1D24 gene are a frequent cause (>2%) of NSHL in Morocco PMID: 26371875
8. This report supports previous observations that mutations in TBC1D24 cause diverse phenotypes PMID: 25557349
9. TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. PMID: 24729539
10. that the p.Ser178Leu mutation of TBC1D24 is a probable cause for dominant, nonsyndromic hearing impairment. Identification of TBC1D24 as the stereocilia-expressing gene may shed new light on its specific function in the inner ear. PMID: 24729547
11. Novel variations in TBC1D24 do not allow prediction of functional phenotypes that might explain, at least in part, the symptoms of malignant migrating partial seizures of infancy (MMPSI). PMID: 24315024
12. Recessive alleles of TBC1D24 can cause either epilepsy or nonsyndromic deafness in human. PMID: 24387994
13. Mutations in TBC1D24 seem to be an important cause of DOORS syndrome and can cause diverse phenotypes. PMID: 24291220
14. A TBC1D24 mutation associated with focal epilepsy, cognitive impairment and cerebro-cerebellar malformation is found in a family with a homozygous TBC1D24 mutation. PMID: 23517570
15. we describe a familial form of MMPSI due to mutation in TBC1D24, revealing a devastating epileptic phenotype associated with TBC1D24 dysfunction. PMID: 23526554
16. Findings expand the spectrum of the TBC1D24 mutation phenotype and the transcript isoforms. PMID: 23343562
17. Two compound heterozygous missense mutations (D147H and A509V) in TBC1D24, a gene of unknown function, are responsible for familial infantile myoclonic epilepsy. PMID: 20727515
18. A pathogenic mutation was identified in TBC1D24. PMID: 20797691

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HGNC: 29203

OMIM: 220500

KEGG: hsa:57465

STRING: 9606.ENSP00000293970

UniGene: Hs.353087