CPRiL

GTF2IRD1

GTF2I repeat domain containing 1

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]

• general transcription factor II-I repeat domain-containing protein 1
• USE B1-binding protein
• Williams-Beuren syndrome chromosome region 11
binding factor for early enhancer
general transcription factor 3
general transcription factor III
muscle TFII-I repeat domain-containing protein 1 alpha 1
slow-muscle-fiber enhancer-binding protein
williams-Beuren syndrome chromosomal region 12 protein
BEN
CREAM1
GTF3
MUSTRD1
RBAP2
WBS
WBSCR11
WBSCR12
hMusTRD1alpha1