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Background:
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.
Applications:
WB
Name of antibody:
GTF2IRD1
Immunogen:
Synthesized peptide derived from N-terminal of human GTF2IRD1.
Full name:
GTF2I repeat domain containing 1
Synonyms:
BEN; WBS; GTF3; RBAP2; CREAM1; MUSTRD1; WBSCR11; WBSCR12; hMusTRD1alpha1
SwissProt:
Q9UHL9
WB Predicted band size:
106 kDa
WB Positive control:
293 cells lysate
WB Recommended dilution:
500-3000