DEAF1
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The DEAF1 transcription factor (HGNC:14677) (or "deformed epidermal autoregulatory factor 1) is a protein coded by DEAF1 at 11p15.5. It is a member of the Zinc finger protein and MYND-type protein. It and its orthologs are found in vertebrate and some invertebrate genuses, notably Drosophila.
Pathology
[edit]Mutations affecting the SAND Domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral troubles.[1]
DEAF1 was implicated in muscle dysregulation during aging by switching on excess activity in the mTORC1 transcription factor and disrupting protein exchange. In mice models, physical activity was reported to lower DEAF1 levels, allowing protein exchange to normalize.[2]
References
[edit]- ↑ 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. 94 (5): 649–661. doi:10.1016/j.ajhg.2014.03.013. PMC 4067565. PMID 24726472.
- ↑ Choy, Sze Mun; Goh, Kah Yong; Lee, Wen Xing; Jiang, Weiyi; Gou, Qian; Gopal Krishnan, Priya D.; Chee Ong, Shi; Chua, Kenon; Harmston, Nathan; Tang, Hong-Wen (2025-12-02). "Exercise suppresses DEAF1 to normalize mTORC1 activity and reverse muscle aging". Proceedings of the National Academy of Sciences. 122 (48) e2508893122. doi:10.1073/pnas.2508893122. PMC 12685040. PMID 41284871.
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