重组通用转录因子III/WBSCR11蛋白

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Recombinant GTF2IRD1
Recombinant GTF2I repeat domain containing 1 protein

基因名：

GTF2IRD1

产品别名：

BEN； CREAM1； GTF3； MUSTRD1； RBAP2； WBS； WBSCR11； WBSCR12； hMusTRD1alpha1； GTF2IRD1； GTF2I repeat domain containing 1； GTF2I repeat domain containing 1； general transcription factor II-I repeat domain-containing protein 1； USE B1-binding protein； Williams-Beuren syndrome chromosome region 11； binding factor for early enhancer； general transcription factor 3； general transcription factor III； muscle TFII-I repeat domain-containing protein 1 alpha 1； slow-muscle-fiber enhancer-binding protein； williams-Beuren syndrome chromosomal region 12 protein；通用转录因子III/WBSCR11；

背景信息：

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 plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]