Your search for "gtf2ird1" returned 216 TaqMan® SNP Genotyping Assays
GTF2I repeat domain containing 1
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]
1700012P16RIK, BEN, CREAM1, ESTM9, GTF2IL, GTF2IRD1, GTF3, HMUSTRD1ALPHA1, MUSTRD1, RBAP2, TG(ALB1-MYC)166.8SST, WBS, WBSCR11, WBSCR12, X83320
(Human) Q9UHL9, (Human) O95444, (Human) Q6DSU6, (Human) Q75MX7, (Human) Q86UM3, (Human) Q8WVC4, (Human) Q9UHK8, (Human) Q9UI91, (Mouse) Q9JI57, (Mouse) Q547E0, (Mouse) Q80WJ8, (Mouse) Q80WJ9, (Mouse) Q80WK0, (Mouse) Q80WK1, (Mouse) Q8R4X5, (Mouse) Q8R4X6, (Mouse) Q8R4X7, (Mouse) Q8R4X8, (Mouse) Q8VHD5, (Mouse) Q8VI58, (Mouse) Q9EQE7, (Mouse) Q9ESZ6, (Mouse) Q9ESZ7
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