Gene Review:
GTF2IRD2 - GTF2I repeat domain containing 2
Homo sapiens
Synonyms:
FLJ37938, FP630, GTF2I repeat domain-containing protein 2A, GTF2IRD2 alpha, GTF2IRD2A, ...
- 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)
- Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension. Del Campo, M., Antonell, A., Magano, L.F., Muñoz, F.J., Flores, R., Bayés, M., Pérez Jurado, L.A. Am. J. Hum. Genet. (2006)
- Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome. Tipney, H.J., Hinsley, T.A., Brass, A., Metcalfe, K., Donnai, D., Tassabehji, M. Eur. J. Hum. Genet. (2004)