GTF2IRD1 Products

Description

GTF2IRD1 is 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.

Bioinformatics

Entrez	246770 Rat 57080 Mouse 9569 Human
Uniprot	AAH18136 Human AAH18136.1 Human NM_016328 Human NP_005676 Human NP_057412.1 Human Q9UHL9 Human
Product By Gene ID	9569
Alternate Names	BEN Cream1 CREAM1 general transcription factor II-I repeat domain-containing protein 1 General transcription factor III GTF2I repeat domain containing 1 GTF2I repeat domain-containing protein 1 GTF3GTF2I repeat domain-containing 1 hMusTRD1alpha1 muscle TFII-I repeat domain-containing protein 1 alpha 1 Muscle TFII-I repeat domain-containing protein 1 MusTRD1 MusTRD1/BEN MUSTRD1general transcription factor 3 RBAP2WBSCR12binding factor for early enhancer Slow-muscle-fiber enhancer-binding protein USE B1-binding protein WBS WBSCR11 Williams-Beuren syndrome chromosomal region 11 protein Williams-Beuren syndrome chromosomal region 12 protein Williams-Beuren syndrome chromosome region 11