Tissue expression
Cell line expression
Protein structure
GTF2IRD1
GTF2I repeat domain containing 1BEN, Cream1, GTF3, MusTRD1, RBAP2, WBSCR11, WBSCR12
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]
Top validated antibodies |
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Invitrogen Antibodies | ![]() |
Polyclonal |
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Novus Biologicals | ![]() |
3 references | Polyclonal |
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Proteintech Group | ![]() |
Polyclonal |
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LSBio | ![]() |
Polyclonal |
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St John's Laboratory | ![]() |
Polyclonal |
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