|Other Names||General transcription factor II-I repeat domain-containing protein 1, GTF2I repeat domain-containing protein 1, General transcription factor III, MusTRD1/BEN, Muscle TFII-I repeat domain-containing protein 1, Slow-muscle-fiber enhancer-binding protein, USE B1-binding protein, Williams-Beuren syndrome chromosomal region 11 protein, Williams-Beuren syndrome chromosomal region 12 protein, GTF2IRD1|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||May be a transcription regulator involved in cell-cycle progression and skeletal muscle differentiation. May repress GTF2I transcriptional functions, by preventing its nuclear residency, or by inhibiting its transcriptional activation. May contribute to slow-twitch fiber type specificity during myogenesis and in regenerating muscles. Binds troponin I slow-muscle fiber enhancer (USE B1). Binds specifically and with high affinity to the EFG sequences derived from the early enhancer of HOXC8 (By similarity).|
|Tissue Location||Highly expressed in adult skeletal muscle, heart, fibroblast, bone and fetal tissues. Expressed at lower levels in all other tissues tested|
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The protein encoded by this gene contains five GTF2I-likerepeats and each repeat possesses a potential helix-loop-helix(HLH) motif. It may have the ability to interact with otherHLH-proteins and function as a transcription factor or as apositive transcriptional regulator under the control ofRetinoblastoma protein. This gene plays a role in craniofacial andcognitive development and mutations have been associated withWilliams-Beuren syndrome, a multisystem developmental disordercaused by deletion of multiple genes at 7q11.23. Alternativesplicing results in multiple transcript variants. [provided byRefSeq].
Antonell, A., et al. J. Med. Genet. 47(5):312-320(2010)Palmer, S.J., et al. J. Biol. Chem. 285(7):4715-4724(2010)Trynka, G., et al. Gut 58(8):1078-1083(2009)Dai, L., et al. Am. J. Med. Genet. A 149A (3), 302-314 (2009) :Lazebnik, M.B., et al. J. Biol. Chem. 283(17):11078-11082(2008)
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