基因名称(Gene Name)
GTF2IRD2B
免疫原
Synthesized peptide derived from human GTD2B AA range: 730-780
特异性
This antibody detects endogenous levels of GTD2B at Human
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.203% 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 2B (GTF2I repeat domain-containing protein 2B) (Transcription factor GTF2IRD2-beta)
背景
This gene encodes a glycosylated phosphoprotein with a leucine zipper motif, two helix-loop-helix motifs (I repeats) that are similar to domains found in the TFII-I family of transcription factors, one CHARLIE8 transposable element-like sequence, and a BED zinc finger. This gene lies within a region that is deleted in Williams-Beuren syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008],
功能
miscellaneous:GTF2IRD2B 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 GTF2IRD2B 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.,
