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Gene Review

GTF2IRD1  -  GTF2I repeat domain containing 1

Homo sapiens

Synonyms: BEN, CREAM1, Cream1, GTF2I repeat domain-containing protein 1, GTF3, ...
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Disease relevance of GTF2IRD1

  • Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23 [1].
  • GTF3 is deleted in patients with classic WS, but not in patients we have studied with partial deletions of the WS critical region who have only supravalvular aortic stenosis [2].
  • The haploinsufficiency of MusTRD has been implicated in the myopathic aspect of this disease, which manifests itself in symptoms such as lowered resistance to fatigue, kyphoscoliosis, an abnormal gait and joint contractures [Tassabehji, Carette, Wilmot, Donnai, Read and Metcalfe (1999) Eur. J. Hum. Genet. 7, 737-747] [3].
  • PATIENTS AND METHODS: 20 breast cancer patients were randomly assigned to use Thêta-Cream or Bepanthol lotion during radiotherapy [4].
  • In this study, we identified four genes (gtf1, gtf2, gtf3, and gtf4) in the genome of Mycobacterium smegmatis [5].

Psychiatry related information on GTF2IRD1


High impact information on GTF2IRD1


Chemical compound and disease context of GTF2IRD1


Biological context of GTF2IRD1


Anatomical context of GTF2IRD1

  • Co-transfection assays in C2C12 cells and Cos-7 cells demonstrate that hMusTRD1alpha1 represses hTnIslow transcription and prevents MEF2C-mediated activation of hTnIslow transcription [17].
  • Fifty-four sets of observations were made when 44 infants were fed both cow's milk (Half Cream Cow & Gate) and expressed human milk [18].

Associations of GTF2IRD1 with chemical compounds

  • Glutathione S-transferase pull-down assays demonstrate that hMusTRD1alpha1 can interact with both MEF2C and the nuclear receptor co-repressor [17].
  • These results indicate that the gtf1 and gtf2 genes are responsible for the early glycosylation steps of GPL biosynthesis and the gtf3 gene is involved in transferring a rhamnose residue not to 6-deoxy-talose but to an O-methyl-rhamnose residue [5].
  • After phase II studies, Thêta-Cream, containing CM Glucan, Hydroxyprolisilan C und Matrixyl as active substances, was said to have prophylactic properties of preventing acute radiation side effects in skin tissue [4].
  • CONCLUSION: In direct comparison with dexpanthenol-containing lotion, no advantage for Thêta-Cream was found [4].
  • Creams based on the formula for Aqueous Cream BP were produced by hand-mixing and mechanical mixing, with and without the inclusion of the preservative phenoxyethanol [19].

Other interactions of GTF2IRD1


Analytical, diagnostic and therapeutic context of GTF2IRD1

  • Gel retardation assays revealed that full-length GTF3, as well as its carboxy-terminal half, specifically bind the bicoid-like motif of SURE (GTTAATCCG) [8].
  • RESULTS: Cream PUVA photochemotherapy induced significant clinical improvement (one patient) or clearance (four patients) of GA in all patients [21].
  • CONCLUSIONS: Cream PUVA phototherapy can be highly effective in patients affected by localized forms of GA [21].
  • In the Carbopol gel, only about 40% of the nominal concentrations of 8-MOP were found and they decrease significantly at storage at 5 degrees C. We conclude that the Carbopol gel seems to be unsuitable for PUVA therapy, whereas Cold Cream Naturel shows the best results [22].
  • It also describes the second product in the 3M Health Care skin care range, Cavilon Durable Barrier Cream [23].


  1. Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23. Franke, Y., Peoples, R.J., Francke, U. Cytogenet. Cell Genet. (1999) [Pubmed]
  2. A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome. Tassabehji, M., Carette, M., Wilmot, C., Donnai, D., Read, A.P., Metcalfe, K. Eur. J. Hum. Genet. (1999) [Pubmed]
  3. Regulation of alternative splicing of Gtf2ird1 and its impact on slow muscle promoter activity. Tay, E.S., Guven, K.L., Subramaniam, N., Polly, P., Issa, L.L., Gunning, P.W., Hardeman, E.C. Biochem. J. (2003) [Pubmed]
  4. Thêta-Cream versus Bepanthol lotion in breast cancer patients under radiotherapy. A new prophylactic agent in skin care? Röper, B., Kaisig, D., Auer, F., Mergen, E., Molls, M. Strahlentherapie und Onkologie : Organ der Deutschen Röntgengesellschaft ... [et al]. (2004) [Pubmed]
  5. Identification and characterization of the genes involved in glycosylation pathways of mycobacterial glycopeptidolipid biosynthesis. Miyamoto, Y., Mukai, T., Nakata, N., Maeda, Y., Kai, M., Naka, T., Yano, I., Makino, M. J. Bacteriol. (2006) [Pubmed]
  6. Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome. van Hagen, J.M., van der Geest, J.N., van der Giessen, R.S., Lagers-van Haselen, G.C., Eussen, H.J., Gille, J.J., Govaerts, L.C., Wouters, C.H., de Coo, I.F., Hoogenraad, C.C., Koekkoek, S.K., Frens, M.A., van Camp, N., van der Linden, A., Jansweijer, M.C., Thorgeirsson, S.S., De Zeeuw, C.I. Neurobiol. Dis. (2007) [Pubmed]
  7. GTF2IRD2 is located in the Williams-Beuren syndrome critical region 7q11.23 and encodes a protein with two TFII-I-like helix-loop-helix repeats. Makeyev, A.V., Erdenechimeg, L., Mungunsukh, O., Roth, J.J., Enkhmandakh, B., Ruddle, F.H., Bayarsaihan, D. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  8. Molecular dissection of DNA sequences and factors involved in slow muscle-specific transcription. Calvo, S., Vullhorst, D., Venepally, P., Cheng, J., Karavanova, I., Buonanno, A. Mol. Cell. Biol. (2001) [Pubmed]
  9. Identification of a novel slow-muscle-fiber enhancer binding protein, MusTRD1. O'Mahoney, J.V., Guven, K.L., Lin, J., Joya, J.E., Robinson, C.S., Wade, R.P., Hardeman, E.C. Mol. Cell. Biol. (1998) [Pubmed]
  10. 17beta-estradiol vaginal tablet versus conjugated equine estrogen vaginal cream to relieve menopausal atrophic vaginitis. Rioux, J.E., Devlin, C., Gelfand, M.M., Steinberg, W.M., Hepburn, D.S. Menopause (New York, N.Y.) (2000) [Pubmed]
  11. An Open-label Adrenal Suppression Study of 0.1% Fluocinonide Cream in Pediatric Patients With Atopic Dermatitis. Schlessinger, J., Miller, B., Gilbert, R.D., Plott, R.T. Archives of dermatology (2006) [Pubmed]
  12. Contact dermatitis from stearyl alcohol in Metosyn (Fluocinonide) Cream. Black, H. Contact Derm. (1975) [Pubmed]
  13. A new formulation containing sunscreen (SPF 15) and 1% metronidazole (ROSASOL Cream) in the treatment of rosacea. Tan, J.K. Skin Therapy Lett. (2001) [Pubmed]
  14. Hydroquinone 4%, tretinoin 0.05%, fluocinolone acetonide 0.01%: a safe and efficacious 12-month treatment for melasma. Torok, H.M., Jones, T., Rich, P., Smith, S., Tschen, E. Cutis; cutaneous medicine for the practitioner. (2005) [Pubmed]
  15. Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23. Hirota, H., Matsuoka, R., Chen, X.N., Salandanan, L.S., Lincoln, A., Rose, F.E., Sunahara, M., Osawa, M., Bellugi, U., Korenberg, J.R. Genet. Med. (2003) [Pubmed]
  16. Characterization and gene structure of a novel retinoblastoma-protein-associated protein similar to the transcription regulator TFII-I. Yan, X., Zhao, X., Qian, M., Guo, N., Gong, X., Zhu, X. Biochem. J. (2000) [Pubmed]
  17. hMusTRD1alpha1 represses MEF2 activation of the troponin I slow enhancer. Polly, P., Haddadi, L.M., Issa, L.L., Subramaniam, N., Palmer, S.J., Tay, E.S., Hardeman, E.C. J. Biol. Chem. (2003) [Pubmed]
  18. Breathing and sucking during feeding in the newborn. Johnson, P., Salisbury, D.M. Ciba Found. Symp. (1975) [Pubmed]
  19. An investigation into the use of low-frequency dielectric spectroscopy as a means of characterizing the structure of creams based on Aqueous Cream BP. Goggin, P.L., He, R., Craig, D.Q., Gregory, D.P. Journal of pharmaceutical sciences. (1998) [Pubmed]
  20. GTF2IRD1 in craniofacial development of humans and mice. Tassabehji, M., Hammond, P., Karmiloff-Smith, A., Thompson, P., Thorgeirsson, S.S., Durkin, M.E., Popescu, N.C., Hutton, T., Metcalfe, K., Rucka, A., Stewart, H., Read, A.P., Maconochie, M., Donnai, D. Science (2005) [Pubmed]
  21. Cream psoralen plus ultraviolet A therapy for granuloma annulare. Grundmann-Kollmann, M., Ochsendorf, F.R., Zollner, T.M., Tegeder, I., Kaufmann, R., Podda, M. Br. J. Dermatol. (2001) [Pubmed]
  22. Long-term stability of 8-methoxypsoralen in ointments for topical PUVA therapy ('Cream-PUVA'). Martens-Lobenhoffer, J., Rinke, M., Lösche, D., Gollnick, H. Skin Pharmacol. Appl. Skin Physiol. (1999) [Pubmed]
  23. 3M Cavilon Durable Barrier Cream in skin problem management. Williams, C. British journal of nursing (Mark Allen Publishing) (2001) [Pubmed]
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