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gtf2ird1

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Official Full Name
GTF2I repeat domain containing 1
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.
Synonyms
GTF2IRD1; GTF2I repeat domain containing 1; GTF2I repeat domain containing 1 , WBSCR11; general transcription factor II-I repeat domain-containing protein 1; BEN; binding factor for early enhancer; Cream1; GTF3; MusTRD1; RBAP2; WBSCR12; General transcription factor II I repeat domain containing protein 1; General transcription factor III; GTF2I repeat domain containing protein 1; Muscle TFII I repeat domain-containing protein 1; MusTRD1/BEN; Slow muscle fiber enhancer binding protein; USE B1 binding protein; WBSCR11; Williams Beuren syndrome chromosome region 11 protein; OTTHUMP00000160822; OTTHUMP00000213171; OTTHUMP00000213172; OTTHUMP00000213173; USE B1-binding protein; general transcription factor 3; binding factor for earl; WBS; hMusTRD1alpha1; slow-muscle-fiber enhancer-binding protein; Williams-Beuren syndrome chromosome region 11; williams-Beuren syndrome chromosomal region 12 protein; muscle TFII-I repeat domain-containing protein 1 alpha 1