Products

Western Blot (Recombinant protein)

ELISA

Entrez GeneID

GeneBank Accession#

Protein Accession#

Gene Name

GTF2IRD1

Gene Alias

BEN, CREAM1, GTF3, MUSTRD1, RBAP2, WBS, WBSCR11, WBSCR12, hMusTRD1alpha1

Gene Description

GTF2I repeat domain containing 1

Omim ID

Gene Ontology

Gene Summary

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 is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing of this gene generates at least 2 transcript variants. [provided by RefSeq

Other Designations

GTF2I repeat domain-containing 1|Williams-Beuren syndrome chromosome region 11|binding factor for early enhancer|general transcription factor 3|muscle TFII-I repeat domain-containing protein 1 alpha 1