General transcription factor II-I repeat domain-containing protein 1 is a protein that in humans is encoded by the GTF2IRD1 gene .[ 5] [ 6] [ 7]
GTF2IRD1 Identifiers Aliases GTF2IRD1 External IDs OMIM : 604318 ; MGI : 1861942 ; HomoloGene : 4158 ; GeneCards : GTF2IRD1 ; OMA :GTF2IRD1 - orthologs Wikidata
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 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.[ 7]
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