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- accession：NM_005685
- 基因别名：GTF2IRD1
- 基因描述：Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 2, mRNA.
- 载体：现货载体
- CDS区长度：2835
- 翻译后氨基酸长度：944
- TranscriptVariant：This variant (2) uses an alternate splice site in the coding region, compared to variant 3. The encoded isoform (2) is shorter compared to isoform 3.
- 基因简介：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]
- 规格：10ul 质粒
CDS区参考序列： 点击查看序列翻译后氨基酸参数序列： 点击查看序列
