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AV39254

Sigma-Aldrich

Anti-GTF2IRD1 (AB3) antibody produced in rabbit

IgG fraction of antiserum

Synonym(s):

Anti-CREAM1, Anti-GTF2I repeat domain containing 1, Anti-GTF3, Anti-MUSTRD1, Anti-RBAP2, Anti-WBSCR11, Anti-WBSCR12, Anti-hMusTRD1α1

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100 μL
$457.00

$457.00

Usually ships in 5 business days. (Orders outside of US, please allow an additional 1-2 weeks for delivery)
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100 μL
$457.00

About This Item

UNSPSC Code:
12352203
NACRES:
NA.41

$457.00

Usually ships in 5 business days. (Orders outside of US, please allow an additional 1-2 weeks for delivery)

biological source

rabbit

Quality Level

100

conjugate

unconjugated

antibody form

IgG fraction of antiserum

antibody product type

primary antibodies

clone

polyclonal

form

buffered aqueous solution

mol wt

106 kDa

species reactivity

mouse, bovine, dog, rabbit, guinea pig, rat, human

concentration

0.5 mg - 1 mg/mL

technique(s)

immunohistochemistry: suitable
western blot: suitable

NCBI accession no.

NP_005676

UniProt accession no.

Q9UHL9

shipped in

wet ice

storage temp.

−20°C

Gene Information

human ... GTF2IRD1(9569)

Related Categories

General description

GTF2IRD1 codes for a GTF2I repeat domain containing protein. It is involved in craniofacial and cognitive development. Genetic variations in GTF2IRD1 are associated with Williams-Beuren syndrome (WBS)[1][2].
Rabbit Anti-GTF2IRD1 antibody recognizes chicken, human, mouse, rat, bovine, and canine GTF2IRD1.

Immunogen

Synthetic peptide directed towards the C terminal region of human GTF2IRD1

Application

Rabbit Anti-GTF2IRD1 antibody is suitable for western blot (2.5 μg/ml) and IHC (4-8 μg/ml) applications.

Biochem/physiol Actions

GTF2IRD1 contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. GTF2IRD1 is related to Williams-Beuren syndrome, a multisystem developmental disorder. Western blots using three different antibodies against three unique regions of this protein target confirm the same apparent molecular weight in our tests. The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing of this gene generates at least 2 transcript variants.

Sequence

Synthetic peptide located within the following region: VIINQLQPFAEICNDAKVPAKDSSIPKRKRKRVSEGNSVSSSSSSSSSSS

Physical form

Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.

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

10 - Combustible liquids

wgk_germany

WGK 1

flash_point_f

Not applicable

flash_point_c

Not applicable

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Certificates of Analysis (COA)

Lot/Batch Number
QC9793

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A Antonell et al.
Journal of medical genetics, 47(5), 312-320 (2009-11-10)
Williams-Beuren syndrome (WBS) is a developmental disorder with multisystemic manifestations mainly characterised by vascular stenoses, distinctive craniofacial features, mental retardation with a characteristic neurocognitive profile, and some endocrine and connective tissue abnormalities, caused by a recurrent deletion of 1.55 Mb
E J Young et al.
Genes, brain, and behavior, 7(2), 224-234 (2007-08-08)
The GTF2IRD1 general transcription factor is a candidate for involvement in the varied cognitive and neurobehavioral symptoms of the microdeletion disorder, Williams-Beuren syndrome (WBS). We show that mice with heterozygous or homozygous disruption of Gtf2ird1 exhibit decreased fear and aggression

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