DEAF1
 | This article provides insufficient context for those unfamiliar with the subject. (May 2015) |
The DEAF1 transcription factor (HGNC:14677) (or "deformed epidermal autoregulatory factor 1 in Drosophila) is coded by DEAF1 at 11p15.5. It is a member of the Zinc finger protein and MYND-type protein.
Pathology
- Mutations affecting the SAND Domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral troubles.[1]
References
- ^ Vulto-Van Silfhout, A. T.; Rajamanickam, S.; Jensik, P. J.; Vergult, S.; De Rocker, N.; Newhall, K. J.; Raghavan, R.; Reardon, S. N.; Jarrett, K.; McIntyre, T.; Bulinski, J.; Ownby, S. L.; Huggenvik, J. I.; McKnight, G. S.; Rose, G. M.; Cai, X.; Willaert, A.; Zweier, C.; Endele, S.; De Ligt, J.; Van Bon, B. W. M.; Lugtenberg, D.; De Vries, P. F.; Veltman, J. A.; Van Bokhoven, H.; Brunner, H. G.; Rauch, A.; De Brouwer, A. P. M.; Carvill, G. L.; et al. (2014). "Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems". The American Journal of Human Genetics. doi:10.1016/j.ajhg.2014.03.013.
 | This medical article is a stub. You can help Wikipedia by expanding it. |