HPA039951
Anti-TBCK antibody produced in rabbit
affinity isolated antibody, buffered aqueous glycerol solution
Sinónimos:
Anti-Hspc302, Anti-Mgc16169, Anti-Tbc1 domain containing kinase
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About This Item
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origen biológico
rabbit
Nivel de calidad
conjugado
unconjugated
forma del anticuerpo
affinity isolated antibody
tipo de anticuerpo
primary antibodies
clon
polyclonal
Formulario
buffered aqueous glycerol solution
reactividad de especies
human
técnicas
immunoblotting: 0.04-0.4 μg/mL
immunohistochemistry: 1:200-1:500
secuencia del inmunógeno
LLANGFNECILLFSDLPEIDIERCVRESINLFCWTPKSATYRQHAQPPKPSSDSSGGRSSAPYFSAECPDPPKTDLSRESIPLNDLKSEVSPRISAEDLIDLCELTVTGHFKTPS
Nº de acceso UniProt
Condiciones de envío
wet ice
temp. de almacenamiento
−20°C
modificación del objetivo postraduccional
unmodified
Información sobre el gen
human ... TBCK(93627)
Descripción general
The TBC1-domain-containing kinase (TBCK) gene is mapped to human chromosome 4q24. The gene codes for putative Rab-specific GTPase-activating protein (GAP).[1]
Inmunógeno
TBC1 domain containing kinase recombinant protein epitope signature tag (PrEST)
Aplicación
Anti-TBCK antibody produced in rabbit has been used in western blot analysis.[1]
Acciones bioquímicas o fisiológicas
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).[1]
Características y beneficios
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:
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.
Ligadura / enlace
Corresponding Antigen APREST81754
Forma física
Solution in phosphate buffered saline, pH 7.2, containing 40% glycerol and 0.02% sodium azide.
Información legal
Prestige Antibodies is a registered trademark of Merck KGaA, Darmstadt, Germany
Cláusula de descargo de responsabilidad
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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Código de clase de almacenamiento
10 - Combustible liquids
Clase de riesgo para el agua (WGK)
WGK 1
Punto de inflamabilidad (°F)
Not applicable
Punto de inflamabilidad (°C)
Not applicable
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Certificados de análisis (COA)
Lot/Batch Number
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Encuentre la documentación para los productos que ha comprado recientemente en la Biblioteca de documentos.
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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