DEAF1
Protein/gene that regulates mTORC1 expression
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.
01Pathology
Mutations affecting the SAND Domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral troubles.
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.
Sources and credits
This article is adapted from the Wikipedia article “DEAF1”, written by its contributors and licensed under CC BY-SA 4.0. Fathomly has changed the layout, removed citation markers, navigation and maintenance notices, and adjusted punctuation. This adapted version is shared under the same license. For references, see the original article.
Fathomly is not affiliated with or endorsed by the Wikimedia Foundation. Spotted a problem? Tell us.