Biology:DEAF1
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Short description: Protein found in Drosophila melanogaster
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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. 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 94 (5): 649–661. doi:10.1016/j.ajhg.2014.03.013. PMID 24726472.
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