GTF2IRD1
gene productBEN, 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]
Featured antibodies
![]() |
![]() |
0 references | Polyclonal |
IHC
![]() |
![]() |
![]() |
0 references | Polyclonal |
WB
![]() ICC ![]() IHC
![]() |
Antibodies
Filters






