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HPA039951

Anti-TBCK antibody produced in rabbit

Name: Anti-TBCK antibody produced in rabbit
Brand: SIGMA

affinity isolated antibody, buffered aqueous glycerol solution

Synonym(s):

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

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About This Item

UNSPSC Code:

12352203

Human Protein Atlas Number:

HPA039951

NACRES:

NA.41

biological source

rabbit

conjugate

unconjugated

antibody form

affinity isolated antibody

antibody product type

primary antibodies

clone

polyclonal

form

buffered aqueous glycerol solution

species reactivity

human

technique(s)

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

immunogen sequence

LLANGFNECILLFSDLPEIDIERCVRESINLFCWTPKSATYRQHAQPPKPSSDSSGGRSSAPYFSAECPDPPKTDLSRESIPLNDLKSEVSPRISAEDLIDLCELTVTGHFKTPS

UniProt accession no.

Q8TEA7

shipped in

wet ice

storage temp.

−20°C

target post-translational modification

unmodified

Gene Information

human ... TBCK(93627)

General description

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

Immunogen

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

Application

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

Biochem/physiol Actions

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).

Features and Benefits

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.

Linkage

Corresponding Antigen APREST81754

Physical form

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

Legal Information

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

Disclaimer

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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Storage Class Code

10 - Combustible liquids

WGK

WGK 1

Flash Point(F)

Not applicable

Flash Point(C)

Not applicable

Certificates of Analysis (COA)

Search for Certificates of Analysis (COA) by entering the products Lot/Batch Number. Lot and Batch Numbers can be found on a product’s label following the words ‘Lot’ or ‘Batch’.

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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)

Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.

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

Heterozygous variants in TBCK cause a mild neurologic syndrome in humans and mice.

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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