{"symbol":"GTF2IRD1","synonyms":["GTF3","WBSCR11","CREAM1","WBSCR12","HMUSTRD1ALPHA1","RBAP2","BEN","MUSTRD1"],"name":"GTF2I repeat domain containing 1","description":"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]","ncbiEntrezGeneId":9569,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/9569","proteins":[{"symbol":"GT2D1_HUMAN","href":"/api/1.0/protein/GT2D1_HUMAN"}],"hgncRootFamilies":[]}