GTF2IRD1 Antibody (monoclonal) (M01)
Mouse monoclonal antibody raised against a partial recombinant GTF2IRD1.
|Calculated MW||106057 Da|
|Other Names||General transcription factor II-I repeat domain-containing protein 1, GTF2I repeat domain-containing protein 1, General transcription factor III, MusTRD1/BEN, Muscle TFII-I repeat domain-containing protein 1, Slow-muscle-fiber enhancer-binding protein, USE B1-binding protein, Williams-Beuren syndrome chromosomal region 11 protein, Williams-Beuren syndrome chromosomal region 12 protein, GTF2IRD1|
|Target/Specificity||GTF2IRD1 (NP_005676, 431 a.a. ~ 530 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.|
|Format||Clear, colorless solution in phosphate buffered saline, pH 7.2 .|
|Storage||Store at -20°C or lower. Aliquot to avoid repeated freezing and thawing.|
|Precautions||GTF2IRD1 Antibody (monoclonal) (M01) is for research use only and not for use in diagnostic or therapeutic procedures.|
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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.
Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism. Palmer SJ, et al. J Biol Chem, 2010 Feb 12. PMID 20007321.Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile. Antonell A, et al. J Med Genet, 2010 May. PMID 19897463.Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. Trynka G, et al. Gut, 2009 Aug. PMID 19240061.Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays. Dai L, et al. Am J Med Genet A, 2009 Mar. PMID 19205026.Characterization of a novel cardiac isoform of the cell cycle-related kinase that is regulated during heart failure. Qiu H, et al. J Biol Chem, 2008 Aug 8. PMID 18508765.
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