DEAF1

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]

gollark: We need to train neural networks to tell people how to make neural networks!Never mind that it's probably easily solved by googling!

gollark: Define sentient.

gollark: I'll take it more seriously if it wins a kodegølf challenge.

gollark: How do you do purely functional IO stuff?

gollark: Before I rearead "himself" I thought you were talking about PHP.

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. PMC 4067565.

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[1] 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. PMC 4067565.