- accession:NM_016328
- 基因别名:GTF2IRD1
- 基因描述:Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.
- 载体: 现货载体
- CDS区长度:2880
- 翻译后氨基酸长度:959
- TranscriptVariant:This variant (1) uses alternate splice sites in the coding region, compared to variant 3. The encoded isoform (1) 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]
- 载体信息:自有图片地址
- 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