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SKU:YP-Ab-08087-100UL
GTD2A rabbit pAb
GTD2A rabbit pAb
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- Gene Name: GTF2IRD2 GTF2IRD2A
- Immunogen: Synthesized peptide derived from human GTD2A AA range: 529-579
- Specificity: This antibody detects endogenous levels of GTD2A at Human
- Composition: Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.202% sodium azide.
- Source: Polyclonal, Rabbit,IgG
- Dilution ratio: WB 1:500-2000
- Purification process: The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
- Concentration: 1 mg/ml
- Storage: -20°C/1 year
- Other Names: General transcription factor II-I repeat domain-containing protein 2A (GTF2I repeat domain-containing protein 2A) (Transcription factor GTF2IRD2-alpha)
- Background: This gene is one of several closely related genes on chromosome 7 encoding proteins containing helix-loop-helix motifs. These proteins may function as regulators of transcription. The encoded protein is unique in that its C-terminus is derived from CHARLIE8 transposable element sequence. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, and loss of this locus may contribute to the cognitive phenotypes observed in this disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013],
- Function: miscellaneous:GTF2IRD2 is a gene located in the Williams-Beuren syndrome (WBS) critical region. WBS is the result of a chromosomal microdeletion 7q11.23 thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Since GTF2IRD2 maps within this duplicated region, more than one copy of the gene was identified. WBS is a rare developmental disorder characterized by distinctive dysmorphic face, mild growth retardation, supravalvular aortic stenosis and infantile hypercalcemia.,similarity:Belongs to the TFII-I family.,similarity:Contains 2 GTF2I-like repeats.,tissue specificity:Ubiquitous.,
- Species: Human;Rat;Mouse;
- Range: WB
- Protein: GTD2A
- DA: 105kD
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