TBC1D24 Antibody, FITC conjugated

說明書

中文名稱：

TBC1D24兔多克隆抗體, FITC偶聯
貨號：

CSB-PA890752LC01HU
規格：

￥880
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) TBC1D24 Polyclonal antibody
Uniprot No.：

Q9ULP9
基因名：

TBC1D24
別名：

TBC1D24 antibody; KIAA1171 antibody; TBC1 domain family member 24 antibody
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human TBC1 domain family member 24 protein (1-169AA)
免疫原種屬：

Homo sapiens (Human)
標記方式：

FITC
克隆類型：

Polyclonal
抗體亞型：

IgG
純化方式：

>95%, Protein G purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
產品提供形式：

Liquid
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

功能：

May act as a GTPase-activating protein for Rab family protein(s). Involved in neuronal projections development, probably through a negative modulation of ARF6 function. Involved in the regulation of synaptic vesicle trafficking.
基因功能參考文獻：
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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相關疾病：

Familial infantile myoclonic epilepsy (FIME); Epileptic encephalopathy, early infantile, 16 (EIEE16); Deafness, autosomal dominant, 65 (DFNA65); Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome (DOORS); Deafness, autosomal recessive, 86 (DFNB86)
亞細胞定位：

Cell membrane; Peripheral membrane protein. Cytoplasm. Cytoplasmic vesicle membrane. Cell junction, synapse, presynapse.
組織特異性：

Highest expression in brain.
數據庫鏈接：

HGNC: 29203

OMIM: 220500

KEGG: hsa:57465

STRING: 9606.ENSP00000293970

UniGene: Hs.353087

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