基因名称(Gene Name)
GTF2IRD2 GTF2IRD2A
免疫原
Synthesized peptide derived from human GTD2A AA range: 529-579
特异性
This antibody detects endogenous levels of GTD2A at Human
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.202% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse serum by affinity-chromatography using specific immunogen.
其他名称
General transcription factor II-I repeat domain-containing protein 2A (GTF2I repeat domain-containing protein 2A) (Transcription factor GTF2IRD2-alpha)
背景
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],
功能
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.,
