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Merck
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安全信息

HPA039951

Sigma-Aldrich

Anti-TBCK antibody produced in rabbit

affinity isolated antibody, buffered aqueous glycerol solution

别名:

Anti-Hspc302, Anti-Mgc16169, Anti-Tbc1 domain containing kinase

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About This Item

UNSPSC代码:
12352203
人类蛋白质图谱编号:
NACRES:
NA.41

生物来源

rabbit

质量水平

偶联物

unconjugated

抗体形式

affinity isolated antibody

抗体产品类型

primary antibodies

克隆

polyclonal

形式

buffered aqueous glycerol solution

种属反应性

human

技术

immunoblotting: 0.04-0.4 μg/mL
immunohistochemistry: 1:200-1:500

免疫原序列

LLANGFNECILLFSDLPEIDIERCVRESINLFCWTPKSATYRQHAQPPKPSSDSSGGRSSAPYFSAECPDPPKTDLSRESIPLNDLKSEVSPRISAEDLIDLCELTVTGHFKTPS

UniProt登记号

运输

wet ice

储存温度

−20°C

靶向翻译后修饰

unmodified

基因信息

human ... TBCK(93627)

一般描述

The TBC1-domain-containing kinase (TBCK) gene is mapped to human chromosome 4q24. The gene codes for putative Rab-specific GTPase-activating protein (GAP).

免疫原

TBC1 domain containing kinase recombinant protein epitope signature tag (PrEST)

应用

Anti-TBCK antibody produced in rabbit has been used in western blot analysis.

生化/生理作用

TBC1-domain-containing kinase (TBCK) plays an essential role in regulation of cell growth and proliferation, actin-cytoskeleton dynamics and mammalian target of rapamycin (mTOR) signaling. Mutation in the gene is associated with severe infantile encephalopathy, hypotonia and intellectual disability (ID).

特点和优势

Prestige Antibodies® are highly characterized and extensively validated antibodies with the added benefit of all available characterization data for each target being accessible via the Human Protein Atlas portal linked just below the product name at the top of this page. The uniqueness and low cross-reactivity of the Prestige Antibodies® to other proteins are due to a thorough selection of antigen regions, affinity purification, and stringent selection. Prestige antigen controls are available for every corresponding Prestige Antibody and can be found in the linkage section.

Every Prestige Antibody is tested in the following ways:
  • IHC tissue array of 44 normal human tissues and 20 of the most common cancer type tissues.
  • Protein array of 364 human recombinant protein fragments.

联系

Corresponding Antigen APREST81754

外形

Solution in phosphate buffered saline, pH 7.2, containing 40% glycerol and 0.02% sodium azide.

法律信息

Prestige Antibodies is a registered trademark of Merck KGaA, Darmstadt, Germany

免责声明

Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.

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WGK

WGK 1

闪点(°F)

Not applicable

闪点(°C)

Not applicable

法规信息

常规特殊物品

分析证书(COA)

输入产品批号来搜索 分析证书(COA) 。批号可以在产品标签上"批“ (Lot或Batch)字后找到。

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Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.
Bhoj EJ
American Journal of Human Genetics, 98(4), 782-788 (2016)
Gene fusions AHRR-NCOA2, NCOA2-ETV4, ETV4-AHRR, P4HA2-TBCK, and TBCK-P4HA2 resulting from the translocations t(5;8;17)(p15;q13;q21) and t(4;5)(q24;q31) in a soft tissue angiofibroma.
Panagopoulos I
Oncology Reports, 36(5), 2455-2462 (2016)
Jessica X Chong et al.
American journal of human genetics, 98(4), 772-781 (2016-04-05)
Infantile encephalopathies are a group of clinically and biologically heterogeneous disorders for which the genetic basis remains largely unknown. Here, we report a syndromic neonatal encephalopathy characterized by profound developmental disability, severe hypotonia, seizures, diminished respiratory drive requiring mechanical ventilation
Divya Nair et al.
American journal of medical genetics. Part A, 191(10), 2508-2517 (2023-06-24)
TBCK-related encephalopathy is a rare pediatric neurodegenerative disorder caused by biallelic loss-of-function variants in the TBCK gene. After receiving anecdotal reports of neurologic phenotypes in both human and mouse TBCK heterozygotes, we quantified if TBCK haploinsufficiency causes a phenotype in

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